17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature.

ABSTRACT:

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 describe 46,XY patients with 17OHD from our center and review the literature.

Methods

We retrospectively analyzed genetically proven index cases of 17OHD from our 46,XY disorders of sex development cohort and reviewed similar cases from the literature (n = 150). Based on the phenotype, 17OHD probands were classified into combined severe deficiency (n = 128) and combined partial deficiency (n = 16). Additionally, patients with the apparent isolated 17,20-lyase deficiency (n = 7, from 6 families) were noted. Residual enzyme activities with the observed mutant enzymes were divided in 2 categ

SUBMITTER: Maheshwari M 

PROVIDER: S-EPMC8845120 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature