Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder
Summary. Disorders of sexual differentiation are defined as congenital alterations between chromosomal, gonadal, and phenotypic sex. The principal cause of these disorders is an adrenal origin; however, there are infrequent causes, such as congenital lipoid adrenal hyperplasia. Case. We present the...
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| Format: | Article |
| Language: | English |
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Wiley
2024-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2024/5399577 |
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| author | Raúl Villanueva Rodríguez Alberto Vielma Valdez Maricruz Cassou Martinez Laura Leticia Pérez Corrales Ramón G. de los Santos Aguilar Luis David Sol Oliva |
| author_facet | Raúl Villanueva Rodríguez Alberto Vielma Valdez Maricruz Cassou Martinez Laura Leticia Pérez Corrales Ramón G. de los Santos Aguilar Luis David Sol Oliva |
| author_sort | Raúl Villanueva Rodríguez |
| collection | DOAJ |
| description | Summary. Disorders of sexual differentiation are defined as congenital alterations between chromosomal, gonadal, and phenotypic sex. The principal cause of these disorders is an adrenal origin; however, there are infrequent causes, such as congenital lipoid adrenal hyperplasia. Case. We present the case of a woman who, during the neonatal period, presented salt-losing adrenal insufficiency associated with 46 XY gonadal dysgenesis. The genetic study found a steroidogenic acute regulatory protein (StAR) mutation. Conclusion. Mutations in StAR result in a nonfunctional protein, which clinically translates into congenital adrenal hyperplasia and, in the case of patients with 46 XY karyotype, is accompanied by gonadal dysgenesis characterized by androgen deficiency, without alterations in anti-Müllerian hormone. |
| format | Article |
| id | doaj-art-c3ce11a5656b448eba31a03e149fbfe1 |
| institution | Kabale University |
| issn | 2090-651X |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-c3ce11a5656b448eba31a03e149fbfe12025-02-03T00:24:47ZengWileyCase Reports in Endocrinology2090-651X2024-01-01202410.1155/2024/5399577Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation DisorderRaúl Villanueva Rodríguez0Alberto Vielma Valdez1Maricruz Cassou Martinez2Laura Leticia Pérez Corrales3Ramón G. de los Santos Aguilar4Luis David Sol Oliva5Faculty of MedicineDepartment of Reproductive Biology Dr. Carlos Gual CastroFaculty of MedicineFaculty of MedicineDepartment of Reproductive Biology Dr. Carlos Gual CastroDepartment of Reproductive Biology Dr. Carlos Gual CastroSummary. Disorders of sexual differentiation are defined as congenital alterations between chromosomal, gonadal, and phenotypic sex. The principal cause of these disorders is an adrenal origin; however, there are infrequent causes, such as congenital lipoid adrenal hyperplasia. Case. We present the case of a woman who, during the neonatal period, presented salt-losing adrenal insufficiency associated with 46 XY gonadal dysgenesis. The genetic study found a steroidogenic acute regulatory protein (StAR) mutation. Conclusion. Mutations in StAR result in a nonfunctional protein, which clinically translates into congenital adrenal hyperplasia and, in the case of patients with 46 XY karyotype, is accompanied by gonadal dysgenesis characterized by androgen deficiency, without alterations in anti-Müllerian hormone.http://dx.doi.org/10.1155/2024/5399577 |
| spellingShingle | Raúl Villanueva Rodríguez Alberto Vielma Valdez Maricruz Cassou Martinez Laura Leticia Pérez Corrales Ramón G. de los Santos Aguilar Luis David Sol Oliva Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder Case Reports in Endocrinology |
| title | Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder |
| title_full | Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder |
| title_fullStr | Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder |
| title_full_unstemmed | Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder |
| title_short | Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder |
| title_sort | congenital lipoid adrenal hyperplasia as a poorly understood cause of 46 xy sexual differentiation disorder |
| url | http://dx.doi.org/10.1155/2024/5399577 |
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