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17β-Hydroxysteroid dehydrogenase 3 deficiency: Three case reports and a systematic review
Zuwei Yang1, Lei Ye1, Wei Wang2
1Shanghai Clinical Center for Endocrine and Metabolic Diseases, Department of Endocrinology, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, 197 Ruijin 2nd Road, Shanghai 200025, PR China.
The Journal of Steroid Biochemistry and Molecular Biology
|August 30, 2017
Summary
This study reports the first East Asian cases of 17β-hydroxysteroid dehydrogenase 3 deficiency, a rare genetic disorder affecting sex development. Findings expand the known ethnic and genetic spectrum of this condition.
Area of Science:
- Endocrinology
- Genetics
- Reproductive Biology
Background:
- 17β-Hydroxysteroid dehydrogenase 3 deficiency (17β-HSD3 deficiency) is a rare autosomal recessive disorder causing 46, XY disorders of sex development.
- Mutations in the HSD17B3 gene are the underlying cause, but cases in East Asia were previously unreported.
Observation:
- Three Chinese patients (two sisters, one unrelated) presented with 46, XY karyotype, inguinal masses, low testosterone, and high androstenedione.
- Two novel homozygous HSD17B3 mutations (W284X and c.124_127delTCTT) were identified in these patients.
Findings:
- A systematic review identified 158 patients globally, with 78.5% assigned female at birth.
- Common mutations vary by ethnicity: c.277+4C>T in Europe and R80Q in West Asia.
- Testicular histology revealed normal infantile tissue and variable germ cell presence in prepubertal and pubertal patients.
Implications:
- This study reports the first documented cases of 17β-HSD3 deficiency in East Asia, broadening the condition's ethnic and genetic landscape.
- Founder effects are noted in different ethnic groups.
- Early orchiopexy may improve fertility outcomes for individuals assigned male.
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