X-linked adrenal hypoplasia congenita

Get in touch with RARE Concierge.

Contact RARE Concierge

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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

Newly diagnosed with
X-linked adrenal hypoplasia congenita?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.