Revisiting classical 3 β-hydroxysteroid dehydrogenase 2 deficiency: lessons from 31 pediatric cases.

CONCLUSIONS: Genetically documented 3βHSD2 deficiency includes salt-losing and non-salt-losing clinical phenotypes. Spared mineralocorticoid function and unvirilized genitalia in females may lead to misdiagnosis and underestimation of the frequency of 3βHSD2 deficiency. High baseline 17OHPreg to cortisol ratio and low 11-oxyandrogen concentrations by LC-MS/MS unequivocally identifies patients with 3βHSD2 deficiency.
PMID: 31950145 [PubMed - as supplied by publisher]

Source: The Journal of Clinical Endocrinology and Metabolism - January 16, 2020 Category: Endocrinology Authors: Guran T, Kara C, Yildiz M, Bitkin EC, Haklar G, Lin JC, Keskin M, Barnard L, Anik A, Catli G, Guven A, Kirel B, Tutunculer F, Onal H, Turan S, Akcay T, Atay Z, Yilmaz GC, Mamadova J, Akbarzade A, Sirikci O, Storbeck KH, Baris T, Chung BC, Bereket A Tags: J Clin Endocrinol Metab Source Type: research