Genetic control of typical and atypical sex development
Sex development relies on the sex-specific action of gene networks to differentiate the
bipotential gonads of the growing fetus into testis or ovaries, followed by the differentiation of …
bipotential gonads of the growing fetus into testis or ovaries, followed by the differentiation of …
Steroid 5α-reductase 2 deficiency
Dihydrotestosterone is a potent androgen metabolite formed from testosterone by action of
5α-reductase isoenzymes. Mutations in the type 2 isoenzyme cause a disorder of 46, XY sex …
5α-reductase isoenzymes. Mutations in the type 2 isoenzyme cause a disorder of 46, XY sex …
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients
L Maimoun, P Philibert, B Cammas… - The Journal of …, 2011 - academic.oup.com
abstract Context: In 46, XY disorders of sex development, 5α-reductase deficiency is rare
and is not usually the first-intention diagnosis in newborn ambiguous genitalia, contrary to …
and is not usually the first-intention diagnosis in newborn ambiguous genitalia, contrary to …
Sex-biased genetic regulation of inflammatory proteins in the Dutch population
CK Boahen, H Abee, IR Ponce, LAB Joosten… - BMC genomics, 2024 - Springer
Background Significant differences in immune responses, prevalence or susceptibility of
diseases and treatment responses have been described between males and females …
diseases and treatment responses have been described between males and females …
[HTML][HTML] Androgen physiology: receptor and metabolic disorders
IJ McEwan, AO Brinkmann - Endotext [Internet], 2021 - ncbi.nlm.nih.gov
Androgens are an important class of C19 steroid hormones that control normal male
development and reproductive function. The main circulating androgen is testosterone …
development and reproductive function. The main circulating androgen is testosterone …
Practical approach to steroid 5alpha-reductase type 2 deficiency
CK Cheon - European journal of pediatrics, 2011 - Springer
The aim of this article is to review the literature on steroid 5alpha-reductase type 2 deficiency
(5α-RD2) to provide clinicians with information to guide their management of patients with …
(5α-RD2) to provide clinicians with information to guide their management of patients with …
Diagnosis of 5α-reductase 2 deficiency: is measurement of dihydrotestosterone essential?
AOK Chan, BWM But, CY Lee, YY Lam, KL Ng… - Clinical …, 2013 - academic.oup.com
BACKGROUND 5α-Reductase 2 deficiency (5ARD) is a known cause of 46, XY disorders of
sex development (DSD). Traditionally, the diagnosis relies on dihydrotestosterone (DHT) …
sex development (DSD). Traditionally, the diagnosis relies on dihydrotestosterone (DHT) …
Phenotype and molecular characteristics in 45 Chinese children with 5α‐reductase type 2 deficiency from South China
J Cheng, R Lin, W Zhang, G Liu, H Sheng… - Clinical …, 2015 - Wiley Online Library
Context Affected by steroid 5α‐reductase type 2 deficiency (5α‐RD 2), 46, XY individuals
present divergent phenotypes characterized by undervirilization of male external genitalia …
present divergent phenotypes characterized by undervirilization of male external genitalia …
Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development
M Nie, Q Zhou, J Mao, S Lu, X Wu - Molecular human …, 2011 - academic.oup.com
Individuals with male karyotype (46, XY) affected by 5α-reductase type 2 deficiency, a rare
autosomal recessive inherited disorder, can have an almost female phenotype or partially …
autosomal recessive inherited disorder, can have an almost female phenotype or partially …
The genotype-phenotype correlation in human 5α-reductase type 2 deficiency: classified and analyzed from a SRD5A2 structural perspective
J Seo, S Shin, S Kim, SJ Kim, M Lee, K Song… - International journal of …, 2023 - mdpi.com
The phenotype of the 5α-reductase type 2 deficiency (5αRD2) by the SRD5A2 gene
mutation varies, and although there have been many attempts, the genotype-phenotype …
mutation varies, and although there have been many attempts, the genotype-phenotype …