Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume.

ABSTRACT:

Background

The human INHA gene encodes the inhibin subunit alpha protein, which is common to both inhibin A and B. The functional importance of inhibins in male sex development, sexual function, and reproduction remain largely unknown.

Objective

We report for the first time two male siblings with homozygous INHAmutations.

Methods

The medical files were examined for clinical, biochemical, and imaging data. Genetic analysis was performed using next-generation and Sanger sequencing methods.

Results

Two brothers complained of gynecomastia, testicular pain, and had a history of hypospadias. Biochemistry revealed low serum testosterone, high gonadotropin and anti-Mullerian hormone, and very low/undetectable inhibin concentrations, where available. Both patients had a

SUBMITTER: Arslan Ates E 

PROVIDER: S-EPMC9010807 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature