Журнал клинических случаев

Late Presentation of a Disorder of Sexual Development Due to Rare 46XX/47XX SRY-Positive 46XX/47XX Karyotype

Abstract

Elamin 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-positive 46XX/47XX DSD. This is the first reported case with SRY 46XX/47XX, although the somatic changes were not different from the rest of the genetic mutation. The spectrum of the DSD presentation is increasing in the population with time, which necessitates meticulous assessment in early infancy, and genetic screening whenever we suspect this condition. The threshold of suspicion of such diseases should be lower.