Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature.

C GusmanoRossella CannarellaA CrafaF BarbagalloS La VigneraR A CondorelliA E Calogero

Published in: Journal of endocrinological investigation (2022)

This systematic review of the literature reports the prevalence of CAH, DSD, and TARTs in patients with PORD. The unknown prevalence of POR gene pathogenetic variants and the paucity of studies investigating fertility do not allow us to establish whether PORD is associated with infertility. Further studies on both women and men are needed to clarify this relationship.

Keyphrases

copy number
polycystic ovary syndrome
risk factors
genome wide
case control
genome wide identification
dna methylation
metabolic syndrome
type diabetes
gene expression
pregnancy outcomes
pregnant women
transcription factor
adverse drug
middle aged
young adults
skeletal muscle
breast cancer risk
drug induced