Journal of Clinical Case Reports

Rashid Mustafa

Publications

• Case Report
  Late Presentation of a Disorder of Sexual Development Due to Rare 46XX/47XX SRY-Positive 46XX/47XX Karyotype
  Author(s): Elamin Ibrahim Elamin Abdelgadir, Alaaeldin MK Bashier, Fatheya Alawadi, Rashid Mustafa, Suada AM Makeen, Ali S Alzahrani and Mohamed Abdelatif ElsayedElamin Ibrahim Elamin Abdelgadir, Alaaeldin MK Bashier, Fatheya Alawadi, Rashid Mustafa, Suada AM Makeen, Ali S Alzahrani and Mohamed Abdelatif Elsayed
  
  Genital tract differentiation and development is a complex process beginning early in embryonic life. Mutation or translocation of the sex-determining region of the Y chromosome (SRY) may lead female genotype to become a male. The absence or genetic mutation of the SRY leads to a male phenotype individual but a female genotype individual (46xx), which is labeled as a Disorder of Sex Development (DSD). We are presenting an 18-year-old male who presented to the endocrine clinic with delayed puberty. There was no apparent predisposing factor upon review of his natal, childhood, and recent history. He had a no secondary sexual characteristics; stretched penile size was 5 cm, and the volume of both testes was around 4 ml. Biochemical assessment showed Hypergonadotrophic hypogonadism, while the peripheral blood Karyotyping showed SRY-positi.. Read More»
  DOI: 10.4172/2165-7920.1000541

  Abstract PDF