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 …

Sexual differentiation is the result of complex genetic and endocrine mechanisms that are
closely associated with the development of both the genitourinary system and the adrenal …

Abstract Knowledge of steroid 5 alpha-reductase type 2 (SRD5A2) gene mutations is
expanding, and its role has been implicated in various disease susceptibilities concerning …

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 …

Abstract 5α-reductase-2 deficiency is a rare autosomal recessive form of 46, XY disorders of
sex differentiation (DSD), caused by mutations in the steroid 5α-reductase type 2 gene …

Abstract Clinical records (n= 24) with an established diagnosis of 5α-reductase-2 deficiency
were reviewed. A previous misdiagnosis was present in about 70%(period from first …

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 …

The observation of ambiguous genitalia in the newborn signals a medical, surgical and
psychological emergency. The most crucial decision will be the choice of sex assignment …

Objective: To investigate the functional change of SRD5A2 gene mutations identified in
patients with 5α-reductase type 2 deficiency. Patients and Methods: Three unrelated …