Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder

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. Mutations in StAR result in a nonfunctional protein, which clinicall...

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Bibliographic Details
Published in:Case reports in endocrinology 2024, Vol.2024 (1), p.5399577
Main Authors: Villanueva Rodríguez, Raúl, Vielma Valdez, Alberto, Cassou Martinez, Maricruz, Pérez Corrales, Laura Leticia, de Los Santos Aguilar, Ramón G, Sol Oliva, Luis David
Format: Article
Language:English
Subjects:
Adrenal glands
Blood proteins
Case Report
Case reports
Cholesterol
Clinical outcomes
Congenital diseases
Endocrine therapy
Endoplasmic reticulum
Enzymes
Females
Fludrocortisone
Genetic disorders
Genotype & phenotype
Hyperplasia
Lipids
Mitochondria
Mutation
Neonatal care
Oliva, Alberto
Pathology
Pathophysiology
Patients
Proteins
Sinuses
Steroids
Vagina
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Summary: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. 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.
ISSN:2090-6501
2090-651X
DOI:10.1155/2024/5399577