In 1964, a rare case of male infertility of 46
XX male syndrome was first reported by de la Chapelle (1).
46,
XX male sex reversal syndrome: a case report and review of the genetic basis.
Two SRY-negative
XX male brothers without genital ambiguity.
Damiani et al., "
XX male: 3 case reports during childhood," Arquivos Brasileiros de Endocrinologia e Metabologia, vol.
Sex reversal of females (phenotypic reversal from XX female to
XX male) is the first step in all female production in species with an XX/XY system for sex determination.
Earlier it was known as 46
XX male syndrome or 46 XX sex reversal2.
In our June issue we will cover the following topics; Late-Onset Hypogonadism in Male Patients Over 60 Years of Age with Metabolic Syndrome, Depression, Anxiety and Quality of Life Among Adult Turkish Patients with Type 1 Diabetes Mellitus, Polycystic Ovary Syndrome and the Relationship of Cardiovascular Disease Risk, Evaluation of Preventive Studies in Type 1 Diabetes Mellitus, Primary Thyroid Lymphoma Diagnosed During Pregnancy: A Case Report, 46,
XX Male Syndrome, Bluish Discoloration with Thyrotoxicosis.
(61) The disorder is known as
XX male syndrome, reported
46,
XX male syndrome--testicular disorder of sexual differentiation (DSD) is a rare condition characterized by a spectrum of clinical presentations, ranging from ambiguous to normal male genitalia.
Using dozens of DNA probes that attach to specific genetic sequences, the scientists compared the structures of Y chromosomes from an
XX male and an XY female.
Moreover, in males, a single gene on the Y chromosome, known as SRY, is critical for testis development, and translocation of the SRY gene to the X chromosome explains testis development in 90% of
XX males.
Using a molecular test dubbed a "Noah's Ark blot," the London researchers found the gene in blood cells of human
XX males, and in male chimpanzees, rabbits, pigs, horses, cattle and tigers.