Pigmented Nodular Adrenocortical Disease, Primary, 3

A number sign (#) is used with this entry because of evidence that primary pigmented nodular adrenocortical disease-3 (PPNAD3) is caused by heterozygous mutation in the PDE8B gene (603390) on chromosome 5q13.

For a general phenotypic description and a discussion of genetic heterogeneity of primary pigmented nodular adrenocortical disease, see PPNAD1 (610489).

Clinical Features

Horvath et al. (2008) described a young girl who had presented with Cushing syndrome at the age of 2 years. An adrenal computed tomographic scan showed enlargement of both left and right adrenal glands. Pigment granules were found in some cells of a biopsy specimen of the adrenocortical nodules. Her father was not known to have Cushing syndrome but he was obese and had hypertension and abnormal midnight cortisol levels. Computed tomography showed that he had mild adrenal hyperplasia, especially of the left adrenal gland.

Molecular Genetics

In a patient with micronodular adrenocortical hyperplasia leading to Cushing syndrome at the age of 2 years, Horvath et al. (2008) identified a heterozygous missense mutation in the PDE8B gene (603390.0001).