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

Polat, Seher; GÜVEN, Ayla

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

Ayla GÜVEN, (Göztepe Training and Research Hospital, Clinic of Pediatric Endocrinology, İstanbul, Turkey Amasya University Faculty of Medicine, Department of Pediatrics, Amasya, Turkey)

Seher POLAT (Erciyes University Faculty of Medicine, Department of Medical Genetics, Kayseri, Turkey)

Journal of Clinical Research in Pediatric Endocrinology

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Yıl: 2017 Cilt: 9 Sayı: 1 Sayfa Aralığı: 85 - 90 Metin Dili: İngilizce İndeks Tarihi: 29-07-2022

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

Öz:

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 3β-hydroxysteroid dehydrogenase deficiency (HSD3β). 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 HSD3β2 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 HSD3β2 gene in both siblings. These two patients are, to our knowledge, the first known cases of TARTs with a novel mutation in the HSD3β2 gene detected during childhood. High-dose hydrocortisone treatment is more reliable for TART in children.

Anahtar Kelime:

Konular: Endokrinoloji ve Metabolizma Pediatri

Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık

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APA	GÜVEN A, Polat S (2017). Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene. , 85 - 90.
Chicago	GÜVEN Ayla,Polat Seher Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene. (2017): 85 - 90.
MLA	GÜVEN Ayla,Polat Seher Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene. , 2017, ss.85 - 90.
AMA	GÜVEN A,Polat S Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene. . 2017; 85 - 90.
Vancouver	GÜVEN A,Polat S Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene. . 2017; 85 - 90.
IEEE	GÜVEN A,Polat S "Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene." , ss.85 - 90, 2017.
ISNAD	GÜVEN, Ayla - Polat, Seher. "Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene". (2017), 85-90.

APA	GÜVEN A, Polat S (2017). Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene. Journal of Clinical Research in Pediatric Endocrinology, 9(1), 85 - 90.
Chicago	GÜVEN Ayla,Polat Seher Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene. Journal of Clinical Research in Pediatric Endocrinology 9, no.1 (2017): 85 - 90.
MLA	GÜVEN Ayla,Polat Seher Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene. Journal of Clinical Research in Pediatric Endocrinology, vol.9, no.1, 2017, ss.85 - 90.
AMA	GÜVEN A,Polat S Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene. Journal of Clinical Research in Pediatric Endocrinology. 2017; 9(1): 85 - 90.
Vancouver	GÜVEN A,Polat S Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene. Journal of Clinical Research in Pediatric Endocrinology. 2017; 9(1): 85 - 90.
IEEE	GÜVEN A,Polat S "Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene." Journal of Clinical Research in Pediatric Endocrinology, 9, ss.85 - 90, 2017.
ISNAD	GÜVEN, Ayla - Polat, Seher. "Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene". Journal of Clinical Research in Pediatric Endocrinology 9/1 (2017), 85-90.