Context There are more than 100 pathogenic variants in CYP17A1 that have been identified
in patients with 17α-hydroxylase/17, 20-lyase deficiency (17OHD). Objective We aimed to …

Background Vitamin D dependent rickets type 1 (VDDR1) is a rare disease due to
pathogenic variants in 1-α hydroxylase gene. We describe our experience with systematic …

The 5α-reductase type 2 enzyme catalyzes the conversion of testosterone into
dihydrotestosterone, playing a crucial role in male development. This enzyme is encoded by …

Objective: As GNRH1 genotype-phenotype correlation in CHH is not well studied, we aim to
describe the GNRH1 variants in our CHH cohort and present a systematic review as well as …

The study aimed to analyze clinical and hormonal phenotype, and genotype in patients with
genetically proven androgen insensitivity syndrome (AIS) from Western India. Index patients …

Abstract Objectives To describe Asian Indian patients with 17β hydroxysteroid
dehydrogenase 3 (17βHSD3) deficiency and to perform a systematic review to determine …

Abstract Steroid 5α-reductase deficiency (5ARD) is a rare autosomal recessive disorder
caused by mutation in the 5α-reductase type 2 gene (SRD5A2). 5ARD results in the …

Context Selective deficiency of β‐subunit of luteinizing hormone (LHB) is a rare disease with
scarce data on its characteristics. Objectives To describe a male with LHB deficiency and …

The adrenal gland is essential for survival and its function is compartmentalized into specific
zones. Disorders of the adrenal gland can be classified as those affecting the adrenal cortex …

Accepted Manuscript Page 1 Accepted Manuscript © The Author(s) 2022. Published by Oxford
University Press on behalf of the Endocrine Society. This is an Open Access article distributed …