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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
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X-linked adrenal hypoplasia congenita?
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Advocacy Organizations
Adrenal Insufficiency united
Helping find resources and navigating the health system
Global Adrenal Testing Consortium
The Global Adrenal Testing Consortium is a patient-led nonprofit transforming adrenal health through open, collaborative research. We unite patients, clinicians, and researchers to redefine cortisol testing—prioritizing accuracy, accessibility, and community-driven innovation. By setting transparent standards, advocating for FDA approval, and ensuring global access, we empower the adrenal insuffic
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Clinical Trials
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