X-linked adrenal hypoplasia congenita
Synonyms: X-linked AHC | X-linked congenital adrenal hypoplasia
A rare genetic adrenal disease characterized by primary adrenal insufficiency (AI) and/or hypogonadotropic hypogonadism (HH). Male patients typically present with AI with acute onset in infancy or insidious onset in childhood. Clinical features of AI include hyperpigmentation vomiting poor feeding failure to thrive seizures vascular collapse and sometimes sudden death. HH manifests later as delayed or arrested puberty. In rare cases patients become symptomatic in early adulthood with delayed-onset AI partial HH and/or infertility. Histologically the adrenal glands lack the permanent adult cortical zone. The remaining cells are larger than fetal adrenal cells (”cytomegalic”) and contain characteristic nuclear inclusions.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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X-linked adrenal hypoplasia congenita?
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