We read with interest the paper of Pizzo et al.[1], confirming that adolescence is a key period
for the diagnosis of 46, XY disorders of sex development (DSD)[2]. However, in our opinion …

Case: A 16-year-old female presented with primary amenorrhea, absent breast
development, Tanner V pubic hair, sparse axillary hair and female appearing external …

Sex reversal in the presence of a 46, XY karyotype can result from mutations of the testis-
determining gene SRY (“sex-determining region Y”), the protein product of which is an …

Introduction Androgen is a generic term usually applied to describe a group of sex steroid
hormones. Androgens are responsible for male sex differentiation during embryogenesis at …

SUMMARY A 28‐year‐old male pseudohermaphrodite with gynaecomastia was raised as a
female until the age of 17 years, at which time he developed masculine features (deepening …

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 …

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 …

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 …