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List of works by Berenice Bilharinho Mendonça

(18)F-FDG-PET/CT imaging of ACTH-independent macronodular adrenocortical hyperplasia (AIMAH) demonstrating increased (18)F-FDG uptake.

scientific article published in November 2011

17Beta-hydroxysteroid dehydrogenase 3 deficiency in women

scientific article published on 01 February 1999

21-Hydroxylase deficiency in Brazil

article

21-Hydroxylase–deficient nonclassic adrenal hyperplasia is a progressive disorder: A multicenter study

scientific article published on 01 December 2000

46,XY DSD due to 17β-HSD3 Deficiency and 5α-Reductase Type 2 Deficiency

scientific article published on 01 January 2011

46,XY DSD due to impaired androgen production.

scientific article

46,XY Disorders of Sex Development (46,XY DSD) due to Androgen Receptor Defects: Androgen Insensitivity Syndrome

article

46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.

scientific article published on 6 May 2016

A 46,XX Testicular Disorder of Sex Development Caused by a Wilms' Tumour Factor-1 (WT1) Pathogenic Variant

article

A GPR54-activating mutation in a patient with central precocious puberty.

scientific article

A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family.

scientific article published on 8 June 2017

A Novel Missense Mutation, GLY424SER, in Brazilian Patients with 21-Hydroxylase Deficiency

article

A Single Nucleotide Variant in the Promoter Region of 17β-HSD Type 5 Gene Influences External Genitalia Virilization in Females with 21-Hydroxylase Deficiency.

scientific article

A Unique Constitutively Activating Mutation in Third Transmembrane Helix of Luteinizing Hormone Receptor Causes Sporadic Male Gonadotropin-Independent Precocious Puberty1 ⬇️

scientific article published on July 1, 1998

A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor

scientific article published in March 1998

A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD).

scientific article published in June 2016

A meiotic recombination in a new isolated familial somatotropinoma kindred

scientific article published on 01 May 2004

A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency

scientific article

A novel GNAS mutation in an infant boy with pseudohypoparathyroidism type Ia and normal serum calcium and phosphate levels

article

A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome

scientific article (publication date: August 2011)

A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.

scientific article published on 24 October 2017

A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism

scientific article published on 06 April 2010

A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty

scientific article

A novel nonsense mutation in the first zinc finger of the vitamin D receptor causing hereditary 1,25-dihydroxyvitamin D3-resistant rickets

scientific article published on 01 November 1997

A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome

scientific article published on 22 July 2017

A severe phenotype of Kennedy disease associated with a very large CAG repeat expansion.

scientific article published on 6 September 2017

A single luteinizing hormone determination 2 hours after depot leuprolide is useful for therapy monitoring of gonadotropin-dependent precocious puberty in girls

scientific article published in September 2004

A single somatic activating Asp578His mutation of the luteinizing hormone receptor causes Leydig cell tumour in boys with gonadotropin-independent precocious puberty

article

A study of patients with Nelson's syndrome

scientific article

A virilizing Leydig cell tumor of the ovary associated with stromal hyperplasia under gonadotropin control ⬇️

scientific article published on 01 December 1997

ARMC5Mutations Are a Frequent Cause of Primary Macronodular Adrenal Hyperplasia

article

Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency

scientific article published on 29 June 2011

Absence of PRKAR1A loss of heterozygosity in laser-captured microdissected pigmented nodular adrenocortical tissue from a patient with Carney complex caused by the novel nonsense mutation p.Y21X

scientific article

Absence of follicle-stimulating hormone receptor activating mutations in women with iatrogenic ovarian hyperstimulation syndrome.

scientific article

Absence of functional LIN28B mutations in a large cohort of patients with idiopathic central precocious puberty.

scientific article

Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis

article

Acromegalic features in growth hormone (GH)-deficient patients after long-term GH therapy

scientific article published in December 2003

Adjuvant radiotherapy for the primary treatment of adrenocortical carcinoma: Are we offering the best?

scientific article

Adrenal Insufficiency and Glucocorticoid Use During the COVID-19 Pandemic

scientific article published on 12 June 2020

Adrenocortical tumors: results of treatment and study of Weiss's score as a prognostic factor

scientific article published on 01 November 2002

Advice on the management of ambiguous genitalia to a young endocrinologist from experienced clinicians

scientific article published on 08 October 2012

Allelic variants of the gamma-aminobutyric acid-A receptor alpha1-subunit gene (GABRA1) are not associated with idiopathic gonadotropin-dependent precocious puberty in girls with and without electroencephalographic abnormalities

scientific article published on 28 March 2006

Amplification of the insulin-like growth factor 1 receptor gene is a rare event in adrenocortical adenocarcinomas: searching for potential mechanisms of overexpression

scientific article

An activating mutation in the CRHR1 gene is rarely associated with pituitary-dependent hyperadrenocorticism in poodles

scientific article published in October 2017

An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical tumors

scientific article published on 01 October 2001

An inhibin B and estrogen-secreting adrenocortical carcinoma leading to selective FSH suppression

scientific article

An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.

scientific article

An update of genetic basis of PCOS pathogenesis

scientific article published on 01 June 2018

Analysis of an iodide radioimmunoassay for 11-deoxicortisol measurement

scientific article published in April 2014

Analysis of anti-Müllerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Müllerian duct syndrome.

scientific article

Analysis of craniofacial and extremity growth in patients with growth hormone deficiency during growth hormone therapy

scientific article published on 3 February 2009

Analysis of glucose-dependent insulinotropic peptide receptor (GIPR) and luteinizing hormone receptor (LHCGR) expression in human adrenocortical hyperplasia.

scientific article

Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.

scientific article published on 10 March 2008

Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp).

scientific article published in April 2013

Androgen insensitivity syndrome: a review.

scientific article published in March 2018

Androgen receptor mRNA analysis from whole blood: a low-cost strategy for detection of androgen receptor gene splicing defects

scientific article published on 07 September 2018

Apparent mineralocorticoid excess in a Brazilian kindred

article

Applicability of a novel mathematical model for the prediction of adult height and age at menarche in girls with idiopathic central precocious puberty.

scientific article published on 26 July 2018

Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development

scientific article published on 11 July 2018

Assessment of stress levels in girls with central precocious puberty before and during long-acting gonadotropin-releasing hormone agonist treatment: a pilot study.

scientific article published in May 2017

Association Study of GWAS-Derived Loci with Height in Brazilian Children: Importance of MAP3K3, MMP24 and IGF1R Polymorphisms for Height Variation

scientific article published on 18 August 2015

Association of glucocorticoid receptor polymorphisms with clinical and metabolic profiles in polycystic ovary syndrome

scientific article published on March 2014

Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort

article

Avanços na etiologia, no diagnóstico e no tratamento da puberdade precoce central

scientific article published on 01 March 2014

Avanços recentes no conhecimento dos mecanismos moleculares envolvidos na tumorigênese adrenocortical

scientific article published on 01 October 2005

Baixa estatura por haploinsuficiência do gene SHOX: do diagnóstico ao tratamento

article

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

scientific article published on 26 October 2017

Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene

scientific article published in February 1996

CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia

scientific article published on 15 January 2013

Calcium-dependent protein kinase-C activity in human adrenocortical neoplasms, hyperplastic adrenals, and normal adrenocortical tissue

scientific article published on 01 September 1994

Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region.

scientific article published on 15 May 2018

Central precocious puberty caused by mutations in the imprinted gene MKRN3.

scientific article

Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.

scientific article

Classic congenital adrenal hyperplasia and its impact on reproduction

scientific article published on 01 January 2019

Clinical and molecuar characterization of Brazilian patients with growth hormone gene deletions ⬇️

scientific article published on 01 April 1998

Clinical and molecular aspects of a pediatric metachronous adrenocortical tumor

scientific article published on 01 February 2011

Clinical management of transsexual subjects

scientific article

Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation

scientific article published on 08 April 2019

Clinical, Hormonal and Pathological Findings in a Comparative Study of Adrenocortical Neoplasms in Childhood and Adulthood

scientific article published on 01 December 1995

Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects.

scientific article

Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a homozygous 25 BP duplication (NT 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon predicted by molecular modeling

scientific article published on 01 November 2008

Combined expression of BUB1B, DLGAP5, and PINK1 as predictors of poor outcome in adrenocortical tumors: validation in a Brazilian cohort of adult and pediatric patients

article

Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion.

scientific article

Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery

scientific article published on 01 May 2019

Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome

scientific article published on 28 May 2013

Comparison between weight-based and IGF-I-based growth hormone (GH) dosing in the treatment of children with GH deficiency and influence of exon 3 deleted GH receptor variant.

scientific article published on 25 November 2008

Complexo de Carney: relato de um caso e revisão da literatura

scientific article published on 01 August 2004

Comprehensive Genetic Analysis of 128 Candidate Genes in a Cohort With Idiopathic, Severe, or Familial Osteoporosis

scientific article published on 07 October 2020

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma

article

Congenital hyperinsulinism in Brazilian neonates: a study of histology, KATP channel genes, and proliferation of β cells

scientific article published on 19 May 2010

Cortisol and adrenocorticotropin response to desmopressin in women with Cushing's disease compared with depressive illness

scientific article published on 01 June 1996

Could the leukocyte x chromosome inactivation pattern be extrapolated to hair bulbs?

scientific article published on 9 March 2010

Craniofacial features with growth hormone treatment

scientific article published on 01 February 2005

Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene

scientific article published in May 2003

DAX1 Overexpression in Pediatric Adrenocortical Tumors: A Synergic Role with SF1 in Tumorigenesis.

scientific article published on 18 May 2015

DLK1 Is a Novel Link Between Reproduction and Metabolism

scientific article published on 01 June 2019

DSD due to 5α-reductase 2 deficiency - from diagnosis to long term outcome

scientific article published on 08 October 2012

Deletion mapping of chromosome 17 in benign and malignant adrenocortical tumors associated with the Arg337His mutation of the p53 tumor suppressor protein.

scientific article

Detection of Y-specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method

scientific article published on 01 February 2002

Diagnosis of prolactinoma in two male-to-female transsexual subjects following high-dose cross-sex hormone therapy

scientific article published on 25 July 2014

Diagnostic value of fluorometric assays in the evaluation of precocious puberty

scientific article published on 01 October 1999

Differential Expression of Stem Cell Markers in Human Adamantinomatous Craniopharyngioma and Pituitary Adenoma.

scientific article

Discriminating between virilizing ovary tumors and ovary hyperthecosis in postmenopausal women: clinical data, hormonal profiles and image studies

scientific article

Disorders of sex development: effect of molecular diagnostics.

scientific article published on 05 May 2015

Effect of zinc administration on thyrotropin releasing hormone-stimulated prolactinemia in healthy men

scientific article published on 01 December 1999

Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency

scientific article

Effectiveness of treating ovarian hyperstimulation syndrome with cabergoline in two patients with gonadotropin-producing pituitary adenomas

scientific article published on 01 September 2006

Effects of Type 1 Insulin-Like Growth Factor Receptor Silencing in a Human Adrenocortical Cell Line

scientific article published on 31 May 2016

Endocrine interaction between zinc and prolactin. An interpretative review.

scientific article published on August 1995

Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency

scientific article published on 01 July 2019

Exon 3-deleted genotype of growth hormone receptor (GHRd3) positively influences IGF-1 increase at generation test in children with idiopathic short stature

scientific article published on 07 June 2007

Expression of LIN28 and its regulatory microRNAs in adult adrenocortical cancer.

scientific article published on 3 November 2014

Expression profiles of the glucose-dependent insulinotropic peptide receptor and LHCGR in sporadic adrenocortical tumors.

scientific article published on 29 October 2008

Extraadrenal 21-hydroxylation by CYP2C19 and CYP3A4: effect on 21-hydroxylase deficiency.

scientific article published on 28 October 2008

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies

scientific article

Factors determining normal adult height in girls with gonadotropin-dependent precocious puberty treated with depot gonadotropin-releasing hormone analogs.

scientific article published on 6 May 2008

Failure of partial hypophysectomy as definitive treatment in cushing’s disease owing to nodular corticotrope hyperpiasia; report of four cases

scientific article published on 01 January 1995

Familial hyperestrogenism in both sexes: clinical, hormonal, and molecular studies of two siblings.

scientific article

Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors

article

Frequency of genetic polymorphisms of PXR gene in the Brazilian population.

scientific article published in January 2011

Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center.

scientific article

GH values after clonidine stimulation measured by immunofluorometric assay in normal prepubertal children and GH-deficient patients

scientific article published in January 2003

GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects

scientific article published on 10 October 2012

Gender assignment in patients with disorder of sex development

scientific article

Genetic predictors of long-term response to growth hormone (GH) therapy in children with GH deficiency and Turner syndrome: the influence of a SOCS2 polymorphism.

scientific article published on 6 June 2014

Genetics of primary macronodular adrenal hyperplasia

scientific article

Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil

scientific article published on 06 November 2020

Genotyping of the type II 3β-hydroxysteroid dehydrogenase gene (HSD3B2) in women with hirsutism and elevated ACTH-stimulated δ5-steroids

article

Global Application of the Assessment of Communication Skills of Paediatric Endocrinology Fellows in the Management of Differences in Sex Development Using the ESPE E-Learning.Org Portal.

scientific article published on 7 July 2017

Glucocorticoid receptor gene polymorphisms in ACTH-secreting pituitary tumours.

scientific article published in November 2002

Glucose-dependent insulinotropic peptide receptor overexpression in adrenocortical hyperplasia in MEN1 syndrome without loss of heterozygosity at the 11q13 locus.

scientific article

Gonadal agenesis in XX and XY sisters: Evidence for the involvement of an autosomal gene

article

Growth hormone (GH) pharmacogenetics: influence of GH receptor exon 3 retention or deletion on first-year growth response and final height in patients with severe GH deficiency.

scientific article published on 15 November 2005

Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing.

scientific article published in December 2017

Growth hormone pharmacogenetics: the interactive effect of a microsatellite in the IGF1 promoter region with the GHR-exon 3 and −202 A/C IGFBP3 variants on treatment outcomes of children with severe GH deficiency

scientific article published on 05 April 2011

Growth hormone receptor messenger ribonucleic acid in normal and pathologic human adrenocortical tissues--an analysis by quantitative polymerase chain reaction technique

scientific article published on 01 August 1997

Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway.

scientific article

HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype

scientific article published on 22 March 2016

High 18F-FDG uptake in PMAH correlated with normal expression of Glut1, HK1, HK2, and HK3.

scientific article published on 11 March 2015

High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic.

scientific article

High degree of discordance between three-dimensional and two-dimensional lumbar spine bone mineral density in Turner's syndrome.

scientific article

Hipoplasia das células de Leydig

scientific article published on 01 February 2005

Homozygous inactivating mutation in NANOS3 in two sisters with primary ovarian insufficiency.

scientific article

Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe

scientific article published in January 2007

Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain

article

IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children

scientific article published on 01 February 2019

Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing

scientific article

Impact of Long-Term Dexamethasone Therapy on the Metabolic Profile of Patients With 21-Hydroxylase Deficiency

scientific article published on 19 June 2019

Impact of glucocorticoid receptor gene polymorphisms on the metabolic profile of adult patients with the classical form of 21-hydroxylase deficiency

scientific article

Increased expression of ACTH (MC2R) and androgen (AR) receptors in giant bilateral myelolipomas from patients with congenital adrenal hyperplasia

scientific article

Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

scientific article published on 01 May 2000

Influence of the A3669G Glucocorticoid Receptor Gene Polymorphism on the Metabolic Profile of Pediatric Patients with Congenital Adrenal Hyperplasia.

scientific article

Influence of the fibroblast growth factor receptor 4 expression and the G388R functional polymorphism on Cushing's disease outcome

scientific article published on 21 July 2010

Insensibilidade completa aos andrógenos em pacientes brasileiras causada pela mutação P766A no gene do receptor androgênico

article

Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational age.

scientific article published on June 2013

Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide

scientific article published on 14 April 2020

Isolated familial somatotropinoma: 11q13-loh and gene/protein expression analysis suggests a possible involvement of aip also in non-pituitary tumorigenesis

scientific article

Laparoscopic adrenalectomy in children.

scientific article published on 29 September 2011

Letter re: FSH Receptor Polymorphisms and Iatrogenic Ovarian Hyperstimulation

scientific article published on 01 August 2005

Long-Acting Gonadotropin-Releasing Hormone Agonists in the Differential Diagnosis of Male Precocious Puberty ⬇️

scientific article published on September 1, 1997

Long-Term Outcomes and Molecular Analysis of a Large Cohort of Patients with 46,XY Disorder of Sex Development due to Partial Gonadal Dysgenesis.

scientific article published on 18 April 2018

Long-term Outcomes of Patients with Central Precocious Puberty due to Hypothalamic Hamartoma After GnRH Analog Treatment: Anthropometric, Metabolic and Reproductive Aspects.

scientific article

Long-term Results after CT-Guided Percutaneous Ethanol Ablation for the Treatment of Hyperfunctioning Adrenal Disorders.

scientific article published on October 2016

Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency

scientific article published on 10 October 2016

Long-term followup of a large cohort of patients with ovotesticular disorder of sex development

scientific article published on 26 March 2014

Long-term treatment of central precocious puberty with a long-acting analogue of luteinizing hormone release hormone (D-Tryp6-GnRH) in monthly injections. Its possible use in normal puberty.

scientific article published on February 1993

Long-term treatment of familial male-limited precocious puberty (testotoxicosis) with cyproterone acetate or ketoconazole.

scientific article

Loss-of-Function Mutations in the Genes Encoding Prokineticin-2 or Prokineticin Receptor-2 Cause Autosomal Recessive Kallmann Syndrome

article

Low DICER1 expression is associated with poor clinical outcome in adrenocortical carcinoma.

scientific article

Low estrogen doses normalize testosterone and estradiol levels to the female range in transgender women.

scientific article

Low frequency of CYP2B deletions in Brazilian patients with congenital adrenal hyperplasia due to 21-hydroxylas deficiency

scientific article published in January 1999

Low-dose oral clonidine: Effective growth hormone releasing agent in children but not in adolescents

scientific article published on 01 October 1987

MAMLD1 (mastermind-like domain containing 1) homozygous gain-of-function missense mutation causing 46,XX disorder of sex development in a virilized female

scientific article published in January 2011

MON-207 Identification of Monogenic Causes of Polycystic Ovary Syndrome by High Throughput Sequencing

MON-245 Sexuality and Fertility Issues in 46,XY Disorders of Sex Development Individuals.

scientific article

MON-247 Clinical Characterization of Female Peripheral Precocious Puberty Due to McCune-Albright Syndrome.

scientific article published on 30 April 2019

MON-251 Clinical Features of a Large Cohort of Patients with Familial Central Precocious Puberty Caused by Loss-of-Function Mutations in MKRN3

Male Pseudohermaphroditism due to 17β-Hydroxysteroid Dehydrogenase 3 Deficiency: Diagnosis, Psychological Evaluation, and Management

scientific article published on 01 September 2000

Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3

scientific article

Male pseudohermaphroditism due to steroid 5alpha-reductase 2 deficiency. Diagnosis, psychological evaluation, and management

scientific article published in March 1996

Male pseudohermaphroditism resulting from Leydig cell hypoplasia

scientific article published on 01 June 1985

Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity: prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling.

scientific article

Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life

scientific article published on 01 December 2019

Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male-limited precocious puberty

article

Menstrual disorders and infertility caused by inactivating mutations of the luteinizing hormone receptor gene.

scientific article

Menstrual disturbances in patients with systemic lupus erythematosus without alkylating therapy: clinical, hormonal and therapeutic associations

scientific article

Methylome profiling of healthy and central precocious puberty girls

scientific article published on 22 November 2018

Microconversion betweenCYP21A2andCYP21A1PPromoter Regions Causes the Nonclassical Form of 21-Hydroxylase Deficiency

scientific article published on 31 July 2007

Mineralocorticoid replacement during infancy for salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

scientific article published on January 2013

Modelos matemáticos para previsão de resposta ao tratamento com hormônio de crescimento

scientific article published on 01 July 2008

Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.

scientific article published on 16 May 2016

Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency

article

Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia

scientific article published in December 2009

Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations

scientific article published on 22 July 2017

Molecular analysis of the neuropeptide Y1 receptor gene in human idiopathic gonadotropin-dependent precocious puberty and isolated hypogonadotropic hypogonadism

article

Molecular and gene network analysis of thyroid transcription factor 1 (TTF1) and enhanced at puberty (EAP1) genes in patients with GnRH-dependent pubertal disorders.

scientific article published on 18 September 2013

Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency

scientific article

Molecular genetics of steroid 5 alpha-reductase 2 deficiency ⬇️

scientific article published on September 1, 1992

Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes.

scientific article

Multicentric study of Brazilian patients with 21-hydroxylase deficiency: a genotype-phenotype correlation

scientific article

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

scientific article (publication date: March 2004)

Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure

scientific article published on December 2016

Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.

scientific article

Mutation analysis of the follicle-stimulating hormone receptor gene in girls with gonadotropin-independent precocious puberty resulting from autonomous cystic ovaries

article

Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders

scientific article published on December 2012

Mutational analysis of the necdin gene in patients with congenital isolated hypogonadotropic hypogonadism.

scientific article

Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.

scientific article published on 18 December 2003

Mutations of the KISS1 gene in disorders of puberty

scientific article

Natural Mutagenesis Study of the Human Steroid 5.alpha.-Reductase 2 Isoenzyme

scientific article published on 01 February 1994

Neonatal 17-hydroxyprogesterone levels adjusted according to age at sample collection and birthweight improve the efficacy of congenital adrenal hyperplasia newborn screening.

scientific article published on 15 December 2016

No evidence for oncogenic mutations in the adrenocorticotropin receptor gene in human adrenocortical neoplasms

scientific article published in March 1995

No evidence of somatic activating mutations on gonadotropin receptor genes in sex cord stromal tumors

scientific article published in November 2000

Non-coding variation in disorders of sex development.

scientific article published on November 2016

Nongenetic Male Pseudohermaphroditism and Reduced Prenatal Growth

scientific article published on 01 October 2001

Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.

scientific article published on 12 May 2010

Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway.

scientific article published on 04 March 2009

Noonan syndrome: from phenotype to growth hormone therapy

scientific article

Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.

scientific article

Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty.

scientific article published on 6 June 2011

Novel mutation in the gonadotropin-releasing hormone receptor (GNRHR) gene in a patient with normosmic isolated hypogonadotropic hypogonadism

article

OR04-6 Predictors of Clinical Outcome after Adrenalectomy for Unilateral Primary Aldosteronism.

scientific article

OR06-6 Whole-Exome Sequencing of Patients with Pituitary Stalk Interruption Syndrome (PSIS) Reveals Probably Pathogenic Variants in Novel Candidate Genes.

scientific article published on 30 April 2019

OR13-5 The Molecular Landscape of Osteogenesis Imperfecta in a Brazilian Tertiary Service Cohort.

scientific article

OR17-2 Comprehensive Genetic Investigation of Patients with Central Precocious Puberty Associated with Complex Phenotypes

OR17-5 Clinical and Genetic Features of Constitutional Delay of Growth and Puberty

OR29-3 Targeted Assessment of G0S2 Methylation Identifies a Rapidly Recurrent, Routinely Fatal Molecular Subtype of Adrenocortical Carcinoma.

scientific article published on 30 April 2019

Obesity and familial predisposition are significant determining factors of an adverse metabolic profile in young patients with congenital adrenal hyperplasia.

scientific article published on 31 July 2013

P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping

scientific article published in December 2003

PROP1 and CTNNB1 expression in adamantinomatous craniopharyngiomas with or without β-catenin mutations.

scientific article

PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome.

scientific article published on 14 June 2005

Padronização da técnica de extração de DNA de células de mucosa oral com NaCl: aplicação no estudo do gene PROP1

article

Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor.

scientific article published on 21 December 2017

Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty.

scientific article published on 27 January 2017

Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes

scientific article published on 19 December 2017

Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

scientific article

Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation

scientific article published in April 2007

Phenotypic variability and origins of mutations in the gene encoding 3beta-hydroxysteroid dehydrogenase type II

article

Pheochromocytoma: Study of 50 Cases

scientific article published on 01 April 1997

Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes

scientific article published in November 2002

Polymorphisms Identified in the Upstream Core Polyadenylation Signal ofIGF1Gene Exon 6 Do Not Cause Pre- and Postnatal Growth Impairment

article

Poor Reproducibility of IGF-I and IGF Binding Protein-3 Generation Test in Children with Short Stature and Normal Coding Region of the GH Receptor Gene

article

Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver–Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11 ⬇️

scholarly article by Luciana R Montenegro et al published March 2012 in European Journal of Endocrinology

Potential Effects of Alendronate on Fibroblast Growth Factor 23 Levels and Effective Control of Hypercalciuria in an Adult with Jansen's Metaphyseal Chondrodysplasia

scientific article published on 25 January 2012

Preface: disorders of sex development

scientific article published on 8 October 2012

Premature thelarche in girls after growth hormone therapy

scientific article published on 01 March 2001

Primary malignant tumors of the adrenal glands

scientific article published on 10 December 2018

Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre.

scientific article published in September 2014

Quality of life of patients with 46,XX and 46,XY disorders of sex development.

scientific article published on 14 August 2014

Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping.

scientific article published on 7 December 2004

Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene.

scientific article

Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly

scientific article published in April 2013

Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion ofWNT-4,RAR-gamma, andRXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women

article

Reprint of "Steroid 5α-reductase 2 deficiency".

scientific article published on 11 November 2016

Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia.

scientific article published on 5 July 2006

Role of GLI2 in hypopituitarism phenotype

scientific article

Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.

scientific article

SAT-064 Validation of Furosemide Upright Test in Primary Aldosteronism Diagnosis Using Direct Renin Assay.

scientific article published on 30 April 2019

SAT-070 Clinical and Imaging Characteristics of Primary Unilateral Adrenal Hyperplasia in Primary Aldosteronism.

scientific article published on 30 April 2019

SAT-217 A Spontaneous and Uneventful Pregnancy in a Turner Syndrome Patient with 45,X[22]/46,X,+Mar[2]/46,Xx[1] Mosaicism: Case Report and Literature Review.

scientific article published on 30 April 2019

SAT-288 Successful Virilization of a PAIS Patient with a Missense Mutation In The Ligand-binding Domain Of The Androgen Receptor with Combined High-dose Testosterone and Aromatase Inhibitor.

scientific article

SAT-320 A Synonymous Pathogenic Variant (p.l180=) in SDHB Gene Identified in a Young Patient with Abdominal Paraganglioma

scientific article published on 30 April 2019

SAT-355 Comparison of Two Serum Cortisol Immunoassays versus Liquid Chromatography: Tandem Mass Spectrometry (LC-MS/MS)

scientific article published on 30 April 2019

SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability

scientific article published on 01 January 2007

SUN-018 Epigenetic Loss of the PIWI/piRNA Machinery in Gonadal Tumors in Androgen Insensitivity Syndrome

scientific article published on 30 April 2019

SUN-031 Quantification of Pooled Libraries for Optimizing Cluster Density in Next Generation Sequencing.

scientific article published on 30 April 2019

SUN-034 Genetic Diagnosis of Congenital Isolated or Combined Growth Hormone Deficiency by Massive Parallel Sequencing Using a Target Gene Panel.

scientific article

SUN-035 Performance of Mutation Pathogenicity Prediction Tools on Missense Variants Associated with 46XY Disorders of Sex Development

scientific article published on 30 April 2019

SUN-041 Estrogen Pharmacogenetics in Patients with Turner Syndrome.

scientific article published on 30 April 2019

SUN-241 Understanding and Communication of DSD in Patients' Perspectives

scientific article published on 30 April 2019

SUN-246 Low Frequency of Pathogenic Allelic Variants in the Disorders of Sex Development Related Genes in Small for Gestational Age Children with Hypospadias

scientific article published on 30 April 2019

SUN-250 Natural History of Growth in Patients with SHOX Gene Haploinsufficiency and Impact of Treatment with rhGH in Adult Height.

scientific article published on 30 April 2019

SUN-252 Comparison of Sitting Height/Height Ratio for Age in Children with Short Stature Caused by Defects in Growth Plate Genes.

scientific article published on 30 April 2019

SUN-265 Performance of Basal and GnRH Analog-Stimulated LH Levels Assessed by an Electrochemiluminescence Assay in Girls with Central Precocious Puberty.

scientific article published on 30 April 2019

SUN-351 Are We Underestimating The Role Of Systemic Chemotherapy In The Treatment Of Localized And Advanced Adrenocortical Carcinoma?

SUN-359 Preserved Bone Mineral Density In Adults With Classical Forms Of Congenital Adrenal Hyperplasia Submitted To Long-term Low Glucocorticoid Doses.

scientific article published on 30 April 2019

SUN-361 Reproductive Outcomes in Females with Virilizing Forms of Congenital Adrenal Hyperplasia

scientific article published on 30 April 2019

SUN-382 Heterogeneous Clinical Presentation In Familial Cases Of Primary Macronodular Adrenal Hyperplasia (PMAH): The Influence Of Somatic Event Of ARMC5.

scientific article published on 30 April 2019

SUN-503 Hyperparathyroidism and Turner Syndrome: A Rare, Overlooked Association?

scientific article

Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1.

scientific article published on 29 May 2009

Selection of adrenal tumor cells in culture demonstrated by interphase cytogenetics

article

Spironolactone-reversible rickets associated with 11β-hydroxysteroid dehydrogenase deficiency syndrome

scientific article published on 01 December 1986

Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels

scientific article published on 01 May 2018

Steroid 5α-reductase 2 deficiency

scientific article published on 22 May 2016

Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults.

scientific article published on 15 January 2010

Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation

scientific article published on 01 February 2005

Successful Live Birth in a Woman With 17α-Hydroxylase Deficiency Through IVF Frozen-Thawed Embryo Transfer

scientific article published on 8 December 2015

Surgery for adrenal tumours with thrombus in the supra-diaphragmatic infra-atrial inferior vena cava, with no cardiopulmonary bypass

scientific article published on 01 July 2004

Surgical Treatment after Failed Primary Correction of Urogenital Sinus in Female Patients with Virilizing Congenital Adrenal Hyperplasia: Are Good Results Possible?

scientific article published on 27 October 2016

Síndrome de insensibilidade aos andrógenos: análise clínica, hormonal e molecular de 33 casos

scientific article published on 01 February 2005

Tall stature and poor breast development after estrogen replacement in a hypergonadotrophic hypogonadic patient with a 45,X/46,X,der(X) karyotype with SHOX gene overdosage.

scientific article published in November 2008

Targeted Assessment of G0S2 Methylation Identifies a Rapidly Recurrent, Routinely Fatal Molecular Subtype of Adrenocortical Carcinoma

scientific article published on 15 February 2019

The -202 A allele of insulin-like growth factor binding protein-3 (IGFBP3) promoter polymorphism is associated with higher IGFBP-3 serum levels and better growth response to growth hormone treatment in patients with severe growth hormone deficiency

scientific article published on 4 November 2008

The Use of Three-dimensional Printers for Partial Adrenalectomy: Estimating the Resection Limits.

scientific article published on 13 January 2016

The benign spectrum of hypothalamic hamartomas: infrequent epilepsy and normal cognition in patients presenting with central precocious puberty

scientific article published on 23 October 2012

The clinical, structural, and biological features of neovaginas: a comparison of the Frank and the McIndoe techniques

scientific article published on 7 January 2015

The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency

scientific article published on 8 April 2008

The desmopressin stimulation test in the differential diagnosis of Cushing's syndrome

scientific article published on 01 May 1993

The effect of distinct activating mutations of the luteinizing hormone receptor gene on the pituitary-gonadal axis in both sexes

article

The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia

scientific article published on 8 October 2012

The effects of spironolactone on testosterone fractions and sex-hormone binding globulin binding capacity in hirsute women ⬇️

scientific article published on 01 June 1995

The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration

scientific article published in January 2004

The genetic and functional basis of isolated 17,20-lyase deficiency

scientific article

The interactive effect of GHR-exon 3 and -202 A/C IGFBP3 polymorphisms on rhGH responsiveness and treatment outcomes in patients with Turner syndrome

scientific article published on 25 January 2012

The laparoscopic management of intersex patients: the preferred approach

scientific article published on 01 April 2005

The role of ARMC5 in human cell cultures from nodules of primary macronodular adrenocortical hyperplasia (PMAH).

scientific article published in July 2017

The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants

scientific article published on 12 August 2010

The role of fibroblast growth factor receptor 4 overexpression and gene amplification as prognostic markers in pediatric and adult adrenocortical tumors.

scientific article

The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis

scientific article published on 26 November 2013

Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect

scientific article

Tratamento da deficiência do hormônio de crescimento (GH) em crianças: comparação entre o uso de canetas versus frascos/seringas para a aplicação do GH

article

Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child.

scientific article

Tumores adrenocorticais: novas perspectivas

scientific article published on 01 October 2004

Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction.

scientific article published in June 2001

Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency

scientific article published on 10 July 2018

Update on the etiology, diagnosis and therapeutic management of sexual precocity.

scientific article published on February 2008

Use of nonradioactive labeling to detect large gene rearrangements in 21-hydroxylase deficiency

scientific article published in December 2004

Usefulness of MLPA in the detection of SHOX deletions

scientific article published on 09 June 2010

Validation of an immunoassay for anti-Müllerian hormone measurements and reference intervals in healthy Brazilian subjects

scientific article published on 23 September 2014

Weight-adjusted neonatal 17OH-progesterone cutoff levels improve the efficiency of newborn screening for congenital adrenal hyperplasia ⬇️

scientific article published on November 1, 2011

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals

scientific article published on December 2016

Women with steroid 5 alpha-reductase 2 deficiency have normal concentrations of plasma 5 alpha-dihydroprogesterone during the luteal phase

scientific article published on 01 November 1995

Y-STRs in Forensic Medicine: DNA Analysis in Semen Samples of Azoospermic Individuals

scientific article published on 01 May 2007

Zinc supplementation does not inhibit basal and metoclopramide-stimulated prolactinemia secretion in healthy men.

scientific article published in January 2002

[Founder effect of E180splice mutation in growth hormone receptor gene (GHR) identified in Brazilian patients with GH insensitivity].

scientific article

[Persistent Müllerian duct syndrome due to a mutation in the anti-Müllerian hormone receptor gene (AMHR2)].

scientific article

[Prostate Development in girls with congenital adrenal hyperplasia: effect of androgens intra-uterus or inappropriate postnatal hormonal control? ]

scientific article published on 01 August 2009

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