Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Disorders of sex development

Disorders of sex development is a group of disorders characterized by disturbances of development, differentiation, and function of sexual organs. The disorder is caused by dysfunctional signaling systems.

Systematic

Hereditary endocrinological diseases
Autoimmune polyendokrinopathy
Disorder of the thyroid hormon system
Disorders of sex development
Congenital hypogonadotropic hypogonadism with anosmia 1
ANOS1
Congenital hypogonadotropic hypogonadism without anosmia 4
PROK2
Congenital hypogonadotropic hypogonadism without anosmia 5
CHD7
Denys-Drash syndrome
WT1
Hypogonadotropic hypogonadism 6 with or without anosmia
FGF8
Müllerian aplasia and hyperandrogenism
WNT4
SERKAL syndrome
WNT4
Disorders of the growth control system
Disorders of the parathyroid hormone system
Genetic adrenal disease
Genetic disorders of pituitary gland
Hereditary diabetes insipidus
Hereditary dsorders of the pituitary gland
Kidney disease appearing as endocrinological disorders
Multiple endocrine neoplasia 1

References:

1.

Köhler B et al. (2008) Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.

external link
2.

Tremblay JJ et al. (2003) A mutated form of steroidogenic factor 1 (SF-1 G35E) that causes sex reversal in humans fails to synergize with transcription factor GATA-4.

external link
3.

Correa RV et al. (2004) A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency.

external link
4.

Mallet D et al. (2004) Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency.

external link
5.

Figueiredo BC et al. (2005) Amplification of the steroidogenic factor 1 gene in childhood adrenocortical tumors.

external link
6.

Hasegawa T et al. (2004) Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1.

external link
7.

Lin L et al. (2006) Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.

external link
8.

Kojima Y et al. (2006) Role of transcription factors Ad4bp/SF-1 and DAX-1 in steroidogenesis and spermatogenesis in human testicular development and idiopathic azoospermia.

external link
9.

Lin L et al. (2007) Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

external link
10.

Xue Q et al. (2007) Transcriptional activation of steroidogenic factor-1 by hypomethylation of the 5' CpG island in endometriosis.

external link
11.

Raivio T et al. (2007) Reversal of idiopathic hypogonadotropic hypogonadism.

external link
12.

Sekido R et al. (2008) Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer.

external link
13.

Lourenço D et al. (2009) Mutations in NR5A1 associated with ovarian insufficiency.

external link
14.

Bashamboo A et al. (2010) Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.

external link
15.

Guran T et al. (2016) Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.

external link
16.

Bashamboo A et al. (2016) A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.

external link
17.

Baetens D et al. (2017) NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

external link
18.

Igarashi M et al. (2017) Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.

external link
19.

Swartz JM et al. (2017) A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant.

external link
20.

Gizard F et al. (2002) The transcriptional regulating protein of 132 kDa (TReP-132) enhances P450scc gene transcription through interaction with steroidogenic factor-1 in human adrenal cells.

external link
21.

Falardeau J et al. (2008) Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.

external link
22.

Taketo M et al. (1995) Homologs of Drosophila Fushi-Tarazu factor 1 map to mouse chromosome 2 and human chromosome 9q33.

external link
23.

Luo X et al. (1994) A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation.

external link
24.

Shen WH et al. (1994) Nuclear receptor steroidogenic factor 1 regulates the müllerian inhibiting substance gene: a link to the sex determination cascade.

external link
25.

Oba K et al. (1996) Structural characterization of human Ad4bp (SF-1) gene.

external link
26.

Wong M et al. (1996) Cloning and sequence analysis of the human gene encoding steroidogenic factor 1.

external link
27.

Nachtigal MW et al. (1998) Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression.

external link
28.

Harris AN et al. (1998) The basic helix-loop-helix, leucine zipper transcription factor, USF (upstream stimulatory factor), is a key regulator of SF-1 (steroidogenic factor-1) gene expression in pituitary gonadotrope and steroidogenic cells.

external link
29.

Tremblay A et al. (1999) Ligand-independent recruitment of SRC-1 to estrogen receptor beta through phosphorylation of activation function AF-1.

external link
30.

Hammer GD et al. (1999) Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress.

external link
31.

Achermann JC et al. (1999) A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans.

external link
32.

None (1999) Gonadal and Extragonadal Functions of Ad4BP/SF-1: Developmental Aspects.

external link
33.

Biason-Lauber A et al. (2000) Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency.

external link
34.

Bland ML et al. (2000) Haploinsufficiency of steroidogenic factor-1 in mice disrupts adrenal development leading to an impaired stress response.

external link
35.

Calvo RM et al. (2001) Screening for mutations in the steroidogenic acute regulatory protein and steroidogenic factor-1 genes, and in CYP11A and dosage-sensitive sex reversal-adrenal hypoplasia gene on the X chromosome, gene-1 (DAX-1), in hyperandrogenic hirsute women.

external link
36.

Achermann JC et al. (2002) Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.

external link
37.

Wilhelm D et al. (2002) The Wilms tumor suppressor WT1 regulates early gonad development by activation of Sf1.

external link
38.

Wikipedia article

Wikipedia EN (Disorders_of_sex_development) external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits