Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1.

ABSTRACT:

Background/aims

Cholesterol side-chain cleavage enzyme (P450scc) deficiency is a rare genetic disorder causing primary adrenal insufficiency with or without a 46,XY disorder of sexual development (DSD). Herein, we report a case of the combination of primary adrenal insufficiency, a DSD (testes with female external genitalia in a setting of a 47,XXY karyotype), and Angelman syndrome.

Methods

Comprehensive genetic analyses were performed, including a single nucleotide polymorphism microarray and whole-exome sequencing. In vitro studies were performed to evaluate the pathogenicity of the novel mutation that was identified by whole-exome sequencing.

Results

The patient was found to have segmental uniparental disomy (UPD) of chromosome 15 explaining her diagnosis of Angelm

SUBMITTER: Kim A 

PROVIDER: S-EPMC5906135 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature