Molecular study and genotype–phenotype in Chinese female patients with 46, XY disorders of sex development

2021 ◽  
pp. 1-7
Author(s):  
Junke Xia ◽  
Jing Wu ◽  
Chen Chen ◽  
Zhenhua Zhao ◽  
Yanchuan Xie ◽  
...  
Keyword(s):  
Disorders Of Sex Development ◽  
Molecular Study ◽  
Female Patients ◽  
Sex Development

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

Psychological Adjustment and Sexual Development of Adolescents With Disorders of Sex Development

2010 ◽  
Vol 47 (5) ◽  
pp. 463-471 ◽  
Author(s):  
Eva Kleinemeier ◽  
Martina Jürgensen ◽  
Anke Lux ◽  
Pia-Marie Widenka ◽  
Ute Thyen
Keyword(s):  
Psychological Adjustment ◽  
Sexual Development ◽  
Disorders Of Sex Development ◽  
Sex Development
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