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dc.contributor.authorAyla Güven
dc.contributor.authorSeher Polat
dc.date.accessioned09.07.201910:49:13
dc.date.accessioned2019-07-09T21:06:10Z
dc.date.available09.07.201910:49:13
dc.date.available2019-07-09T21:06:10Z
dc.date.issued2017
dc.identifier.issn1308-5727
dc.identifier.urihttps://app.trdizin.gov.tr/publication/paper/detail/TWpJNE1qZ3pNdz09
dc.identifier.urihttps://hdl.handle.net/20.500.12450/464
dc.description.abstractTesticular adrenal rest tumors (TART) occur frequently in adolescents and adults with 21-hydroxylase deficiency. There have been no reports of TART in children with 3?-hydroxysteroid dehydrogenase deficiency (HSD3?). 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 HSD3?2 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 HSD3?2 gene in both siblings. These two patients are, to our knowledge, the first known cases of TARTs with a novel mutation in the HSD3?2 gene detected during childhood. High-dose hydrocortisone treatment is more reliable for TART in children.en_US
dc.description.abstractTesticular adrenal rest tumors (TART) occur frequently in adolescents and adults with 21-hydroxylase deficiency. There have been no reports of TART in children with 3?-hydroxysteroid dehydrogenase deficiency (HSD3?). 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 HSD3?2 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 HSD3?2 gene in both siblings. These two patients are, to our knowledge, the first known cases of TARTs with a novel mutation in the HSD3?2 gene detected during childhood. High-dose hydrocortisone treatment is more reliable for TART in children.en_US
dc.language.isoengen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectPediatrien_US
dc.subjectEndokrinoloji ve Metabolizmaen_US
dc.titleTesticular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Geneen_US
dc.typeotheren_US
dc.relation.journalJournal of Clinical Research in Pediatric Endocrinologyen_US
dc.departmentAmasya Üniversitesien_US
dc.identifier.volume9en_US
dc.identifier.issue1en_US
dc.identifier.startpage85en_US
dc.identifier.endpage90en_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US


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