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Revisiting Classical 3β-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases
Tulay Guran1, Cengiz Kara2, Melek Yildiz3
1Department of Pediatric Endocrinology and Diabetes, School of Medicine, Marmara University, Istanbul, Turkey.
The Journal of Clinical Endocrinology and Metabolism
|January 18, 2020
Summary
3β-hydroxysteroid dehydrogenase 2 (3βHSD2) deficiency presents with varied clinical features, including non-salt-losing phenotypes. Steroid metabolomics aids in diagnosing 3βHSD2 deficiency, crucial for accurate clinical management.
Area of Science:
- Endocrinology
- Genetics
- Metabolomics
Background:
- Clinical effects of 3β-hydroxysteroid dehydrogenase 2 (3βHSD2) deficiency are not well-defined due to limited case reports.
- Understanding the full spectrum of 3βHSD2 deficiency is essential for accurate diagnosis and management.
Purpose of the Study:
- To evaluate the integrated steroid metabolome in patients with 3βHSD2 deficiency.
- To characterize the short- and long-term clinical features associated with 3βHSD2 deficiency.
Main Methods:
- A multicenter, cross-sectional study involving 31 children diagnosed with 3βHSD2 deficiency.
- Genetic analysis of HSD3B2 mutations using Sanger sequencing and in vitro studies.
- Measurement of 19 plasma adrenal steroids via liquid chromatography-tandem mass spectrometry (LC-MS/MS).
Main Results:
- Eleven homozygous HSD3B2 mutations (6 novel) were identified.
- Patients with pathogenic HSD3B2 missense variants (>5% wild type activity) exhibited a non-salt-losing phenotype.
- Ambiguous genitalia in males and infrequent virilization in females were noted, alongside premature pubarche (78%) and adolescent complications.
Conclusions:
- Genetically confirmed 3βHSD2 deficiency encompasses both salt-losing and non-salt-losing phenotypes.
- Misdiagnosis can occur due to spared mineralocorticoid function and lack of virilization in females.
- LC-MS/MS analysis of the 17OHPreg to cortisol ratio and 11-oxyandrogens provides definitive diagnosis.
