Context: The SRY gene encodes a transcription factor responsible for initiating testis
differentiation. Mutations in SRY almost always result in XY sex reversal with pure gonadal …

An individual's sexual phenotype is usually determined by the presence or absence of the Y
chromosome in the embryo's karyotype, however, due to abnormal X/Y terminal exchange …

The vanishing testis with maleness is a rare syndrome with frequency of 1 in 20,000 males.
Here, we report about a 30 years old male subject with vanishing testis syndrome …

The 46, XX male disorder of sex development (DSD) is rarely observed in humans. Patients
with DSD are all male with testicular tissue differentiation. The mechanism of sex …

Male sexual differentiation involves a cascade of events initiated by the presence on the Y
chromosome of the SRY gene, which causes the indifferent gonad to develop into a testis …

Background Red scrotum syndrome (RSS) is not infrequent but is often misdiagnosed or
underdiagnosed, and seldom reported. The exact etiopathogeneis is still unknown but it …

Context: The clinical and biological features of Sertoli cell and Leydig cell dysfunction are
usually investigated when characterizing disorders of sex development in 46, XY …

Background: Klinefelter syndrome (KS) mosaicism 46, XX/47, XXY is an extremely rare
disorder of sex development characterized by the presence of both ovarian and testicular …

We present the case of an 11 year-old boy, who asked for medical attention due to obesity
and assumed underdeveloped external genitalia. He did not have genital anomalies, penile …

Background: Disorders of sex development (DSD) are a wide range of relatively rare
conditions having diverse pathophysiology. Identification of an underlying cause can help in …