FOXL2 and SOX9 as parameters of female and male gonadal differentiation in patients with various forms of disorders of sex development (DSD)

2008 ◽  
Vol 215 (1) ◽  
pp. 31-38 ◽  
Author(s):  
R Hersmus ◽  
N Kalfa ◽  
B de Leeuw ◽  
H Stoop ◽  
JW Oosterhuis ◽  
...  
Keyword(s):  
Disorders Of Sex Development ◽  
Gonadal Differentiation ◽  
Sex Development

Inter-Tissue Gonosomal Mosaicism in Patients with Disorders of Sex Development, Associated with Abnormalities of Gonadal Differentiation

2021 ◽  
Vol 57 (11) ◽  
pp. 1312-1321
Author(s):  
N. V. Oparina ◽  
N. Yu. Raygorodskaya ◽  
O. Yu. Latyshev ◽  
L. N. Samsonova ◽  
E. A. Volodko ◽  
...  
Keyword(s):  
Disorders Of Sex Development ◽  
Gonadal Differentiation ◽  
Sex Development

scholarly journals Multifunctional role of steroidogenic factor 1 and disorders of sex development

2011 ◽  
Vol 55 (8) ◽  
pp. 607-612 ◽  
Author(s):  
Maricilda Palandi de Mello ◽  
Emerson Salvador de Souza França ◽  
Helena Campos Fabbri ◽  
Andréa Trevas Maciel-Guerra ◽  
Gil Guerra-Júnior
Keyword(s):  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Gonadal Differentiation ◽  
Steroidogenic Factor 1 ◽  
Functional Roles ◽  
Secondary Sexual Characteristics ◽  
Delayed Onset ◽  
Sex Development ◽  
Sexual Characteristics

Disorders of sex development (DSD) involve several conditions that result from abnormalities during gonadal determination and differentiation. Some of these disorders may manifest at birth by ambiguous genitalia; others are diagnosed only at puberty, by the delayed onset of secondary sexual characteristics. Sex determination and differentiation in humans are processes that involve the interaction of several genes such as WT1, NR5A1, NR0B1, SOX9, among others, in the testicular pathway, and WNT4, DAX1, FOXL2 and RSPO1, in the ovarian pathway. One of the major proteins in mammalian gonadal differentiation is the steroidogenic nuclear receptor factor 1 (SF1). This review will cover some of the most recent data on SF1 functional roles and findings related to mutations in its coding gene, NR5A1.

Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Kazuhisa Akiba ◽  
Keiko Aso ◽  
Yukihiro Hasegawa ◽  
Maki Fukami
Keyword(s):  
Disorders Of Sex Development ◽  
Reference Value ◽  
Ambiguous Genitalia ◽  
Chinese Patients ◽  
Sex Development ◽  
Liquid Chromatography Tandem Mass ◽  
Exon 1 ◽  
Genome Analyses ◽  
Immune Assays

Abstract Objectives 5α-reductase type 2 deficiency due to biallelic SRD5A2 variants is a common form of 46,XY disorders of sex development. Case presentation A Chinese neonate presented with ambiguous genitalia. He carried a homozygous likely_pathogenic SRD5A2 variant (c.650C>A, p.A217E). His apparently nonconsanguineous parents were heterozygotes for the variant. The variant has previously been identified in two Chinese patients. Our patient carried 14.2 Mb loss-of-heterogeneity regions distributed in the genome. The SRD5A2 variant in this family was invariably coupled with two polymorphisms in exon 1 and intron 1. In the patient, blood testosterone (T)/5α-dihydrotestosterone (5αDHT) ratios were elevated before and during mini puberty, and were higher when measured by liquid chromatography-tandem mass spectrometry (LC-MS/MS) than measured by conventional immune assays. Conclusions This study provides evidence for the founder effect of an SRD5A2 variant. Furthermore, our data indicate that there is a need to establish a new reference value for T/5αDHT ratios using LC-MS/MS.

scholarly journals Prenatal management of disorders of Sex development

2012 ◽  
Vol 8 (6) ◽  
pp. 576-584 ◽  
Author(s):  
Lyn S. Chitty ◽  
Pierre Chatelain ◽  
Katja P. Wolffenbuttel ◽  
Yves Aigrain
Keyword(s):  
Disorders Of Sex Development ◽  
Sex Development ◽  
Prenatal Management
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