Reproductive phenotypes and genotypes in men with IHH.

Andrew A DwyerMaria StamouElla AnghelShira HornsteinDanna ChenKathryn B SalnikovIsabella R McDonaldLacey PlummerStephanie B SeminaraRavikumar Balasubramanian

Published in: The Journal of clinical endocrinology and metabolism (2022)

Partial puberty and LH ≥ 2.10 IU/L are proxies for pulsatile LH secretion. ANOS1 PTVs confer severe reproductive phenotypes. Variable phenotypic severity in the face of severe genetic variants in other IHH genes point to significant neuroendocrine plasticity of the HPG axis in IHH men.

Keyphrases

early onset
middle aged
genome wide
drug induced
gene expression
dna methylation
transcription factor