Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase 3 deficiency
- VernacularTitle:男性假两性畸形——17β-羟类固醇脱氢酶3型缺陷症研究
- Author:
Jun YANG
;
Guang NING
;
Lihao SUN
;
Jie HONG
;
Jialun CHEN
;
Manyin XU
;
Weiqing WANG
;
Xiaoying LI
- Publication Type:Journal Article
- Keywords:
Male pseudohermaphroditism;
17-β-hydroxysteroid dehydrogenase 3;
Gene mutation
- From:
Chinese Journal of Endocrinology and Metabolism
2008;24(3):272-274
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical and genetic characteristics in a patient with 17β-hydroxy-steroid dehydrogenase (17β-HSD) 3 deficiency, regarding its pathophysiology and pathogenesis. Methods Clinical features and laboratory data were analyzed in a pedigree of 17β-HSD3 deficiency. Blood samples from the patient and his parents were collected. HSD17B3 gene was screened for mutations by PCR and subclone sequencing. Results The patient presented with pubertal virilization and gynecomastia. The physical examination showed female external genitalia and testes in inguinal canals. The chromosome karyotype was 46, XY. Serum FSH, LH, dehydroepiandrosterone sulfate, androstenedione and 17-OH-progesterone levels were raised, whereas plasma testosterone was lowered. Sequencing analysis revealed 4 nucleotide deletion (172-175del) of HSD17B3 gene. Conclusion Virilization and gynecomastia in puberty suggest the probability of 17β-HSD deficiency. It may be verified clinically by hCG-stimulating test and confirmed by gene diagnosis.
