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  4. A novel mutation causing 17-beta-hydroxysteroid dehydrogenase type 3 deficiency in an Omani child: first case report and review of literature

A novel mutation causing 17-beta-hydroxysteroid dehydrogenase type 3 deficiency in an Omani child: first case report and review of literature

Authors

Al Sinani Aisha
Mula Abed, Waad Allah
Al Kindi, Manal
Al Kusaibi, Ghariba
Al Azkawi, Hanan
Nahavandi, Nahid
Royal Hospital ; , National Diabetes and Endocrine Centre ; ,

Med. Forum Mon. 2015; 30 (2): 129-134
Oman Medical Journal
Journal Country: Oman
P-ISSN: 1999-768X
E-ISSN: 2070-5204
Type of Publication: Case Reports
Category: Humans, Male,
Country of Research: Oman
Type of Research: Clinical
Keywords: 17-Hydroxysteroid Dehydrogenases / Deficiency
Broad Subjects: Maternal, Reproductive and Child Health, 46, XY Disorders of Sex Development ,Mutation ,Review Literature as Topic ,17-Hydroxysteroid Dehydrogenases ,Genetics ,Disorders of Sex Development ,Estrone ,Androstenedione ,Testosterone ,Child
Citation: Aisha Al Sinani ,Waad Allah Mula Abed ,Manal Al Kindi ,Ghariba Al Kusaibi ,Hanan Al Azkawi ,Nahid Nahavandi , A novel mutation causing 17-beta-hydroxysteroid dehydrogenase type 3 deficiency in an Omani child: first case report and review of literature, Med. Forum Mon. 2015; 30 (2): 129-134

Abstract English

Thisis the first case report in Oman and the Gulf region of a 17-beta-hydroxysteroid dehydrogenase type 3 [17-beta-HSD3] deficiency with a novel mutation in the HSD17B3 gene that has not been previously described in the medical literature. An Omani child was diagnosed with 17-beta-HSD3 deficiency and was followed up for 11 years at the Pediatric Endocrinology Clinic, Royal Hospital, Oman. He presented at the age of six weeks with ambiguous genitalia, stretched penile and bilateral undescended testes. Ultrasound showed no evidence of any uterine or ovarian structures with oval shaped solid structures in both inguinal regions that were confirmed by histology to be testicular tissues with immature seminiferous tubules only. The diagnosis was made by demonstrating low serum testosterone and high androstenedione, estrone, and androstenedione: testosterone ratio. Karyotyping confirmed 46, XY and the infant was raised as male. Testosterone injections [25 mg once monthly] were given at two and six months and then three months before his surgeries at five and seven years of age when he underwent multiple operations for orchidopexy and hypospadias correction. At the age of 10 years he developed bilateral gynecomastia [stage 4] . Laboratory investigations showed raised follicle-stimulating hormone, luteinizing hormone, androstenedione, and estrone with low-normal testosterone and low androstendiol glucurunide. Testosterone injections [50 mg once monthly for six months] were given that resulted in significant reduction in his gynecomastia. Molecular analysis revealed a previously unreported homozygous variant in exon eight of the HSD17B3 gene [NM_000197.1: c.576G>A. Trp192*] . This variant creates a premature stop codon, which is very likely to result in a truncated protein or loss of protein production. This is the first report in the medical literature of this novel HSD17B3 gene mutation. A literature review was conducted to identify the previous studies related to this disorder

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