The Sertoli Cell Only Syndrome and Glaucoma in a Sex – Determining Region Y (SRY) Positive XX Infertile Male

Abstract

The XX male syndrome is a rare genetic disorder. The phenotype is variable; it ranges from a severe impairment of the external genitalia to a normal male phenotype with infertility. It generally results from an unequal crossing over between the short arms of the sex chromosomes (X and Y). We are reporting a case of a 38-year-old man who presented with infertility and the features of hypogonadism and glaucoma. The examinations revealed normal external male genitalia, soft small testes, gynaecomastia and glaucoma. The semen analysis showed azoospermia. The serum gonadotropins were high, with low Anti Mullerian Hormone (AMH) and Inhibin B levels. The chromosomal analysis demonstrated a 46, XX karyotype. Fluorescent In-Situ Hybridization (FISH) and Polymerase Chain Reaction (PCR) revealed the presence of a Sex-determining Region Y (SRY). Testicular Fine Needle Aspiration Cytology (FNAC) revealed the Sertoli Cell Only Syndrome (SCOS). The presence of only Sertoli Cells in the testes, with glaucoma in the XX male syndrome, to our knowledge, has not been reported in the literature.

Ten cases with 46,XX testicular disorder of sex development: single center experience

“…The sex-determining region Y gene (SRY) located in Y chromosome plays a major role in encoding a testis determining factor (TDF) ( 5 , 6 ). About 90% of 46,XX testicular DSD have Y chromosomal material including the SRY gene, that is usually translocated to the distal tip of the short arm of X chromosome or autosomal chromosomes.…”

46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature

“…In addition, 46,XX testicular DSD always presents as one of three phenotypes: (1) classic XX males, infertility with normal male internal and external genitalia; (2) XX males with ambiguous genitalia, which is usually apparent at birth by external genital ambiguities, such as hypospadias, micropenis, or hyperclitoridy, and (3) XX true hermaphrodites with internal or external genital ambiguities detected at birth [ 2 – 4 ]. The sex-determining region Y ( SRY ) gene plays a major role in encoding a testis determining factor (TDF), which is located on the Y chromosome [ 5 , 6 ]. Approximately 80% of patients with 46,XX testicular DSD are SRY -positive and usually have a normal male phenotype at birth.…”

Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

“…Discordance between NIPT gender results and the phenotypic features requires further prenatal and postnatal investigation of the fetus as well as maternal karyotyping to rule out maternal contributions, such as mosaicism. In our case, further prenatal cytogenetic molecular analyses allowed us to identify the presence of the SRY gene, which indicates normal external genitalia and masculinization and the absence of spermatogenic genes on Yq (AZFa, AZFb, and AZFc), which plays a role in azoospermia …”