List of works - John C. Achermann

A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make

scientific article

A genomic atlas of human adrenal and gonad development

scientific article

A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia

scientific article published on 12 September 2006

A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes

scientific article published on October 2000

A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development

scientific article published on April 2013

A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics.

scientific article

A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita

scientific article published on 16 February 2007

A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia

scientific article published on 28 June 2005

A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism

scientific article

A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency

scientific article published on 28 March 2006

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

scientific article published on 27 December 2016

Ambiguous genitalia

scientific article published on 01 March 2011

An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita

scientific article

Analysis of CDKN1C in fetal growth restriction and pregnancy loss

scientific article published on 23 January 2019

Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience

scientific article published on 9 May 2006

Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency ⬇️

scientific article published on 3 January 2012

Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation

scientific article

Birth weight influences the initial response to growth hormone treatment in growth hormone-insufficient children

scientific article published in August 1998

CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease

scientific article

ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland.

scientific article

Characterisation and validation of insertions and deletions in 173 patient exomes

scientific article

Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita

scientific article published on 01 February 1999

Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies.

scientific article published on 26 January 2012

Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR).

scientific article

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.

scientific article published on 7 December 2017

DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

scientific article (publication date: August 2015)

Disorders of adrenal development

scientific article published on January 2008

Disorders of sex development: effect of molecular diagnostics.

scientific article published on 05 May 2015

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

scientific article

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK

scientific article published on 11 May 2021

Genetic causes of human reproductive disease

scientific article

Genetic disorders involving adrenal development

scientific article published on January 2007

Genetic disorders of nuclear receptors

scientific article

Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner

scientific article published in April 2002

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

scientific article published on 2 January 2007

Holistic management of DSD.

scientific article

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure

scientific article published on 26 October 2004

Human Male Infertility Associated with Mutations in NR5A1Encoding Steroidogenic Factor 1.

scientific article published in November 2010

Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling

scientific article

Human sex development: targeted technologies to improve diagnosis

scientific article published on 15 December 2016

Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita

scientific article published in January 2002

IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene

scientific article

Inherited adrenal hypoplasia: not just for kids!

scientific article published on May 2004

Inherited disorders of the gonadotropin hormones.

scientific article

Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency

publication published on 11 February 2022

Kisspeptin Is a Novel Regulator of Human Fetal Adrenocortical Development and Function: A Finding With Important Implications for the Human Fetoplacental Unit.

scientific article

Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center

scientific article published on 24 July 2017

Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis

scientific article published on 01 March 2020

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

scientific article published on 16 February 2018

Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression

scientific article

Mitochondrial disease and endocrine dysfunction

scientific article published on 7 October 2016

Molecular and structural analysis of two novel StAR mutations in patients with lipoid congenital adrenal hyperplasia.

scientific article

Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay

scientific article published on 01 December 1999

Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study

scientific article

Mutations in NR5A1 associated with ovarian insufficiency

scientific article

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

scientific article

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

scientific article published on 24 January 2018

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

scientific journal article

Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD

scientific article published on 10 October 2019

Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia

scientific article

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

scientific article

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

scientific article published on 24 July 2019

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency

scientific article published on 08 March 2022

Peak and trough growth hormone (GH) concentrations influence growth and serum insulin like growth factor-1 (IGF-1) concentrations in short children

scientific article published on 01 March 1999

Persistent unexplained congenital clitoromegaly in females born extremely prematurely

scientific article published on 22 April 2013

Phenotypic spectrum of mutations in DAX-1 and SF-1 ⬇️

scientific article (publication date: 20 December 2001)

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.

scientific article published on 30 October 2018

Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1.

scientific article

Primary adrenal insufficiency: New genetic causes and their long-term consequences

scientific article published on 30 October 2019

Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1.

scientific article

Puberty, stress, and sudden death

scientific article published on October 2010

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

scientific article

Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function

scientific article published on 16 December 2010

SF1 in the development of the adrenal gland and gonads.

scientific article

SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development

scientific article

Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc

scientific article

Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.

scientific article published on February 2007

Single cell derived mRNA signals across human kidney tumors

scientific article published on 23 June 2021

Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.

scientific article published on September 2008

Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015).

scientific article published on 13 August 2015

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.

scientific article

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

scientific article published on 06 February 2017

Steroidogenic factor-1 (SF-1) and its relevance to pediatric endocrinology.

scientific article

Steroidogenic factor-1 (SF-1, NR5A1) and human disease

scientific article

Steroidogenic factor-1 and human disease

scientific article published on 08 October 2012

Sterol O-acyltransferase 1 (SOAT1, ACAT) is a novel target of steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) in the human adrenal

scientific article

Stress response and child health

scientific article

Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations

scientific article

The GH response to low-dose bolus growth hormone-releasing hormone (GHRH(1-29)NH2) is attenuated in patients with longstanding post-irradiation GH insufficiency

scientific article

The Role of DAX-1 in Reproduction

scientific article published on 01 July 1998

The adrenal

scientific article

The growth hormone receptor gene deleted for exon three (GHRd3) polymorphism is associated with birth and placental weight

scientific article published in February 2012

The relationship between the growth hormone and insulin-like growth factor axis in long-term survivors of childhood brain tumours

scientific article published in November 1998

The relative roles of continuous growth hormone-releasing hormone (GHRH(1-29)NH2) and intermittent somatostatin(1-14)(SS) in growth hormone (GH) pulse generation: studies in normal and post cranial irradiated individuals

scientific article published on November 1999

The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans

scientific article

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency

scientific article published on 13 May 2009

Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.

scientific article published on 14 December 2004

UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development

scientific article

Update--steroidogenic factor 1 (SF-1, NR5A1).

scientific article published on June 2010

Variable phenotypes associated with aromatase (CYP19) insufficiency in humans

scientific article

Variable presentation of X-linked adrenal hypoplasia congenita.

scientific article

We used to call them hermaphrodites

scientific article

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

scientific article published on December 2016

X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females

scientific article published on 01 December 1999

List of works by John C. Achermann

A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make

A genomic atlas of human adrenal and gonad development

A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia

A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes

A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development

A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics.

A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita

A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia

A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism

A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

Ambiguous genitalia

An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita

Analysis of CDKN1C in fetal growth restriction and pregnancy loss

Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience

Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency ⬇️

Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation

Birth weight influences the initial response to growth hormone treatment in growth hormone-insufficient children

CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease

ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland.

Characterisation and validation of insertions and deletions in 173 patient exomes

Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita

Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies.

Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR).

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.

DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

Disorders of adrenal development

Disorders of sex development: effect of molecular diagnostics.

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK

Genetic causes of human reproductive disease

Genetic disorders involving adrenal development

Genetic disorders of nuclear receptors

Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

Holistic management of DSD.

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure

Human Male Infertility Associated with Mutations in NR5A1Encoding Steroidogenic Factor 1.

Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling

Human sex development: targeted technologies to improve diagnosis

Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita

IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene

Inherited adrenal hypoplasia: not just for kids!

Inherited disorders of the gonadotropin hormones.

Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency

Kisspeptin Is a Novel Regulator of Human Fetal Adrenocortical Development and Function: A Finding With Important Implications for the Human Fetoplacental Unit.

Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center

Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression

Mitochondrial disease and endocrine dysfunction

Molecular and structural analysis of two novel StAR mutations in patients with lipoid congenital adrenal hyperplasia.

Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay

Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study

Mutations in NR5A1 associated with ovarian insufficiency

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD

Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency

Peak and trough growth hormone (GH) concentrations influence growth and serum insulin like growth factor-1 (IGF-1) concentrations in short children

Persistent unexplained congenital clitoromegaly in females born extremely prematurely

Phenotypic spectrum of mutations in DAX-1 and SF-1 ⬇️

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.

Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1.

Primary adrenal insufficiency: New genetic causes and their long-term consequences

Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1.

Puberty, stress, and sudden death

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function

SF1 in the development of the adrenal gland and gonads.

SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development

Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc

Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.

Single cell derived mRNA signals across human kidney tumors

Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.