Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.

Elena Jane TuckerMegan J BakerDaniella H HockJulia T WarrenSylvie JaillardKatrina M BellRajini SreenivasanShabnam BakhshalizadehChloe A HannaNikeisha J CaruanaSaskia B WortmannShamima RahmanRobert D S PitceathlyJean DonadieuAurelia AlimiVincent LaunayPaul CoppoSophie Christin-MaitreGorjana RobevskaJocelyn van den BergenBrianna L KlineKatie L AyersPhoebe N StewartDavid A StroudDiana StojanovskiAndrew H Sinclair

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

A novel splicing variant is associated with CLPB deficiency in an individual who survived to adulthood. POI is a common feature of postpubertal female individuals with CLPB deficiency. Patients with CLPB deficiency should be referred to pediatric gynecologists/endocrinologists for prompt POI diagnosis and hormone replacement therapy to minimize associated comorbidities.

Keyphrases

replacement therapy
smoking cessation
depressive symptoms
machine learning
single cell
rna seq
neural network