Post-finasteride syndrome (PFS) is a constellation of serious adverse side effects manifested
in clinical symptoms that develop and persist in patients during and/or after discontinuing …

Steroids are important physiological orchestrators of endocrine as well as peripheral and
central nervous system functions. One of the key processes for regulation of these molecules …

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 …

α-Reductase type 2 enzyme catalyzes the conversion of testosterone into
dihydrotestosterone, a potent androgen responsible for male sexual development during the …

Disorders of sexual development (DSD) are estimated to occur in 1 of 4500 births. Since the
genetic etiology of DSD is highly heterogeneous, obtaining a definitive molecular diagnosis …

Abstract Context Steroidogenic factor 1 (NR5A1/SF-1) is a nuclear receptor that regulates
sex development, steroidogenesis, and reproduction. Genetic variants in NR5A1/SF-1 are …

Variants in the NR5A1 gene encoding SF1 have been described in a diverse spectrum of
disorders of sex development (DSD). Recently, we reported the use of a targeted gene …

Objective 5a-reductases are a family of isozymes expressed in a wide host of tissues
including the central nervous system (CNS) and play a pivotal role in male sex ual …

STUDY QUESTION What percentage of cases with non-syndromic hypospadias can be
ascribed to mutations in known causative/candidate/susceptibility genes or submicroscopic …

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 …