دورية أكاديمية
Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development.
| العنوان: | Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development. |
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| المؤلفون: | Kırkgöz T; Division of Paediatric Endocrinology, Behçet Uz Children's Education and Research Hospital, Izmir, Türkiye., Gürsoy S; Deparment of Paediatric Genetics, Behçet Uz Children's Education and Research Hospital, Izmir, Türkiye., Acar S; Division of Paediatric Endocrinology, Behçet Uz Children's Education and Research Hospital, Izmir, Türkiye., Köprülü Ö; Division of Paediatric Endocrinology, Behçet Uz Children's Education and Research Hospital, Izmir, Türkiye., Özkaya B; Division of Paediatric Endocrinology, Behçet Uz Children's Education and Research Hospital, Izmir, Türkiye., Arslan G; Division of Paediatric Endocrinology, Behçet Uz Children's Education and Research Hospital, Izmir, Türkiye., Nalbantoğlu Ö; Division of Paediatric Endocrinology, Behçet Uz Children's Education and Research Hospital, Izmir, Türkiye., Hazan F; Department of Medical Genetics, Behçet Uz Children's Education and Research Hospital, Izmir, Türkiye., Özkan B; Division of Paediatric Endocrinology, Behçet Uz Children's Education and Research Hospital, Izmir, Türkiye. |
| المصدر: | Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2024 Apr 23; Vol. 37 (6), pp. 575-579. Date of Electronic Publication: 2024 Apr 23 (Print Publication: 2024). |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2191-0251 (Electronic) Linking ISSN: 0334018X NLM ISO Abbreviation: J Pediatr Endocrinol Metab Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Mar. 2011- : Berlin : Walter de Gruyter Original Publication: London : Freund Pub. House, [1995- |
| مواضيع طبية MeSH: | Steroidogenic Factor 1*/genetics , Disorder of Sex Development, 46,XY*/genetics , Homozygote*, Humans ; Female ; Male ; Infant ; Mutation ; Prognosis |
| مستخلص: | Objectives: Nuclear receptor subfamily 5 group A member 1 ( NR5A1 ) is a transcription factor critical for the development of various organs. Pathogenic variants in NR5A1 are associated with a spectrum of disorders of sex development (DSD). Case Presentation: A 15-month-old baby, raised as a girl, was referred for genital swelling and ambiguous genitalia. Born to healthy consanguineous parents, the baby had a phallus, perineal hypospadias, labial fusion, and a hypoplastic scrotum. Hormonal evaluation showed normal levels, and ultrasonography revealed small gonads and absence of Müllerian derivatives. Post-human chorionic gonadotropin (hCG) testing indicated an adequate testosterone response. The karyotype was 46,XY, and in it was found a homozygous NR5A1 variant (c.307 C>T, p.Arg103Trp) in a custom 46 XY DSD gene panel. Notably, the patient exhibited complete sex reversal, hyposplenia, and no adrenal insufficiency. Conclusions: Previously, NR5A1 pathogenic variants were considered to be dominantly inherited, and homozygous cases were thought to be associated with adrenal insufficiency. Despite the homozygous pathogenic variant, our patient showed hyposplenism with normal adrenal function; this highlights the complexity of NR5A1 genotype-phenotype correlations. These patients should be monitored for adrenal insufficiency and DSD as well as splenic function. (© 2024 Walter de Gruyter GmbH, Berlin/Boston.) |
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| فهرسة مساهمة: | Keywords: DSD 46 XY; NR5A1; ambiguous genitalia; hyposplenism |
| المشرفين على المادة: | 0 (Steroidogenic Factor 1) 0 (NR5A1 protein, human) |
| تواريخ الأحداث: | Date Created: 20240423 Date Completed: 20240605 Latest Revision: 20240709 |
| رمز التحديث: | 20240709 |
| DOI: | 10.1515/jpem-2023-0551 |
| PMID: | 38650427 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 2191-0251 |
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| DOI: | 10.1515/jpem-2023-0551 |