Adrenal Hypoplasia Clinical Presentation

Updated: Dec 14, 2021
  • Author: Thomas A Wilson, MD; Chief Editor: Robert P Hoffman, MD  more...
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Presentation

History

Congenital adrenal hypoplasia most commonly presents in the neonatal period but may not become apparent until later in childhood.

Patients often present in crisis with dehydration, hyponatremia, hyperkalemia, hypotension, or hypoglycemia.

Patients with adrenal hypoplasia secondary to intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies (IMAGe) association have a history of intrauterine growth retardation. Males have genital abnormalities.

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Physical Examination

Patients may demonstrate hyperpigmentation from increased serum concentrations of adrenocorticotropic hormone (ACTH).

Signs of dehydration are often present.

Hypotension and symptoms of neuroglycopenia may be present.

Testes are undescended in many patients; micropenis may be seen in subjects with hypogonadotropic hypogonadism. Hypospadias or cryptorchidism may be seen in patients with IMAGe association.

Hearing loss may be an associated finding. [21]

A case study by Karsli et al reported two cases of adrenal hypoplasia presenting with chronic respiratory distress. [23]

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