[A pedigree study of a patient with primary pigmented nodular adrenocortical disease and familial gene mutation].

Abstract

OBJECTIVE:

To clarify the clinical features and genetic background of a kindred of primary pigmented nodular adrenocortical disease (PPNAD).

METHODS:

Detailed clinical characteristics and laboratory test results from a ten-year old girl diagnosed as PPNAD were collected. Seven members of her family were screened for Cushing syndrome and Carney complex, and their blood DNA was extracted and sequenced for PRKAR1A, PDE11A, PDE8B and CTNNB1 mutations with ABI3730.

RESULTS:

The girl presented with symptoms and signs of hypercortisolism, while no features of Carney complex were observed. Hypercortisolemia, suppressed corticotrophin and high urinary free cortisol level were revealed. Cortisol level could not be suppressed both in high and low dose dexamethasone suppression test. The diagnosis of adrenocorticotrophic hormone (ACTH)-independent Cushing syndrome was established. Image and pathology of adrenal glands were in accordance with PPNAD. Other family members showed no evidence of Cushing syndrome or Carney complex. DNA sequencing showed that the patient harbored a missense mutation, C18G. Her father and younger sister were proved to be carriers of this mutation.

CONCLUSION:

A Chinese PPNAD family was identified clinically and genetically, and a novel missense mutation of PRKAR1A was found.

• Authors: Hui Ran, Xiaokun Ma, Qingzhu Wang, Ziyi Xie, Yanxia Ding, Guijun Qin
• Journal: Zhonghua nei ke za zhi (Zhonghua Nei Ke Za Zhi) Vol. 53 Issue 5 Pg. 398-402 (May 2014) ISSN: 0578-1426 [Print] China
• PMID: 25146409 (Publication Type: Case Reports, Journal Article)

Chemical References

• Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
• PRKAR1A protein, human
• Adrenocorticotropic Hormone

Topics

• Adrenal Cortex Diseases (genetics)
• Adrenocorticotropic Hormone
• Child
• Cushing Syndrome (diagnosis)
• Cyclic AMP-Dependent Protein Kinase RIalpha Subunit (genetics)
• Female
• Genetic Predisposition to Disease (genetics)
• Humans
• Mutation
• Mutation, Missense
• Pedigree
• Pigmentation Disorders (diagnosis, genetics)
• Sequence Analysis, DNA