ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume : 9 Issue : 1 Year : 2024
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Turkish Society for Pediatric Endocrinology and Diabetes
Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2017; 9(1): 85-90 | DOI: 10.4274/jcrpe.3306

Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene

Ayla Güven1, Seher Polat2
1Göztepe Training And Research Hospital, Clinic Of Pediatric Endocrinology, Istanbul, Turkey
2Erciyes University Faculty Of Medicine, Department Of Medical Genetics, Kayseri, Turkey

Testicular adrenal rest tumors (TART) occur frequently in adolescents and adults with 21-hydroxylase deficiency. There have been no reports of TART in children with 3ß-hydroxysteroid dehydrogenase deficiency (HSD3ß). Biopsy proven TART was diagnosed in a 31/12-year-old male patient and also in his 22-month-old sibling. Hormonal and anthropometric measurements were performed during glucocorticoid and fludrocortisone treatment. The mutational analysis was performed by direct DNA sequencing of the complete coding region of the HSD3ß2 gene. Initially, both siblings were treated with high doses of hydrocortisone and fludrocortisone. TART regressed with dexamethasone treatment in both patients. However, growth velocity decreased and weight gain increased in both patients. Dexamethasone was changed to high-dose hydrocortisone (>20 mg/m2/d). Sequencing analyses revealed a novel homozygous p.W355R (c.763 T>C) mutation at exon 4 of the HSD3ß2 gene in both siblings. These two patients are, to our knowledge, the first known cases of TARTs with a novel mutation in the HSD3ß2 gene detected during childhood. High-dose hydrocortisone treatment is more reliable for TART in children.

Keywords: HSD3ß gene, testicular adrenal rest tumor, congenital adrenal hyperplasia, 46,XY disorder of sex development

Ayla Güven, Seher Polat. Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene. J Clin Res Pediatr Endocrinol. 2017; 9(1): 85-90
Manuscript Language: English
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