Familial adrenal hypoplasia with absent pituitary luteinizing hormone

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Synonyms: Familial adrenal hypoplasia with absent pituitary LH | Familial adrenal hypoplasia, miniature type

A rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization) selective absence of pituitary luteinizing hormone in otherwise normal brain and neonatal demise. Patients present with hypogonadotropic hypogonadism hypoglycemia seizures encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988.

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 June 2024

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Familial adrenal hypoplasia with absent pituitary luteinizing hormone?

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