STUDY QUESTION What is the epidemiology and trajectory of health and socioeconomic
status in males with 46, XX disorders of sex development (DSD)? SUMMARY ANSWER 46 …

Background The 46, XY female is characterised by a male karyotype and female phenotype
arising due to any interruption in the sexual development pathways in utero. The cause is …

Results There was no statistically significant difference between the two groups in terms of
age, serum prolactin, luteinizing hormone (LH) levels and IIEF scores (P> 0.05). In 46, XX …

SRY on the Y chromosome initiates male sex determination. We tested a phenotypic female
with sex chromosome mosaicism, X/XYY, for SRY expression. SRY was determined by …

Background: Androgen receptor (AR) gene mutations are the most frequent cause of 46, XY
disorders of sex development (DSD) and are associated with a variety of phenotypes …

Here we present a male newborn with multiple congenital anomalies who also has an
extremely rare form of testicular disorder of sex development (DSD). His karyotype was 45X …

A 17-year-old XX male with constitutional delay of growth and development and genetic
short stature is described. Testosterone levels were normal but luteinizing-hormone …

Purpose Patients with a karyotype of 45, X (monosomy X) normally display a female
phenotype. However, in some rare cases, monosomy X is associated with maleness. Here …

46, XY pure gonadal dysgenesis, first described in 1955 by Swyer, results from testicular
tissue loss during the first 8 weeks of fetal life, a critical period for male differentiation. We …

46, XY gonadal dysgenesis is characterized by sexual infantilism, absence of differentiated
gonads, only streak gonads being present, and presence of normally developed Mullerian …