The human chorionic gonadotropin (hCG) test represents a key step in assessing Leydig
cell function in prepubertal males, but differences in terms of hCG doses, number of …

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 …

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) …

Page 1 GENDER A Genealogy of an Idea JENNIFER GERMON º Page 2 Gender Page 3 This
page intentionally left blank Page 4 Gender A Genealogy of an Idea Jennifer Germon Page 5 …

Abstract Genetic factors contribute upto 15%–30% cases of male infertility. Formation of
spermatozoa occurs in a sequential manner with mitotic, meiotic, and postmeiotic …

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 …

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 …

Context Steroid 5α‐reductase type 2 deficiency (5α‐RD 2) is a male‐limited, autosomal
recessive inherited disease. Affected 46, XY individuals usually present with ambiguous …

One hundred and forty‐six index patients with 46, XY DSD in whom gonads were confirmed
as testes were consecutively studied for a molecular diagnosis during the period 2002 …

Inactivating mutations of the SRD5A2 gene result in steroid 5α‐reductase 2 deficiency, an
autosomal recessive disorder expressed as a male‐limited disorder of sex development …