Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency - characterization of a new genetic variant.

Cagla Margit ØzdemirMette Mølby NielsenJani LiimattaClarissa D VoegelRawda Naamneh ElzenatyVictor S WasehuusMarie Lind-HolstMarie Juul OrnstrupStine Bjørn GramLilian Bomme OusagerChrista E FlückClaus Højbjerg Gravholt

Published in: Endocrinology, diabetes & metabolism case reports (2024)

Non-classic 3βHSD2 is likely underdiagnosed. Late diagnosis of mild non-classic 3βHSD2 does occur and one should be aware of this diagnosis. Early diagnosis of NCCAH may prevent many consequences such as severe hirsutism, prolonged menstrual irregularities, infertility, or even adrenal crisis with severe infections. Comprehensive steroid profiling and genetic testing should be used earlier, especially when in doubt about a diagnosis.

Keyphrases

public health
gene expression
single cell
adipose tissue
skeletal muscle
copy number
polycystic ovary syndrome