A novel DEAH-box helicase 37 mutation associated with differences of sex development.

ABSTRACT:

Objective

To determine the genetic etiology of a family pedigree with two patients affected by differences of sex development (DSD).

Methods

Assess the clinical characteristics of the patients and achieve exome sequencing results and in vitro functional studies.

Results

The 15-year-old proband, raised as female, presented with delayed puberty and short stature associated with atypical genitalia. Hormonal profile showed hypergonadotrophic hypogonadism. Imaging studies revealed the absence of a uterus and ovaries. The karyotype confirmed a 46, XY pattern. Her younger brother presented with a micropenis and hypoplastic scrotum with non-palpable testis and hypospadias. Laparoscopic exploration was performed on the younger brother. Streak gonads were found and remov

SUBMITTER: Wan Y 

PROVIDER: S-EPMC10098359 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature