523 screening of the SRY coding region revealed a deletion of adenine (A) at nucleotide
position 70 (c. 70delA) in the patient (Figure 1d). The mutation was not found in her family …

OBJECTIVE: To investigate the molecular mechanism of a Chinese patient with 46, XY sex
reversal. METHODS: DNA fragments of the SRY gene from the typical XY female sex …

We report four patients with SRY-positive 46, XX testicular disorders of sex development (46,
XX-TDSD)(cases 1–4). Case 1 exhibited underdeveloped external genitalia with …

Background A male individual with a karyotype of 46, XX is very rare. We explored the
genetic aetiology of an infertility male with a kayrotype of 46, XX and SRY negative. Methods …

BACKGROUND: The importance of the Y chromosome in male determination hasbeen well
established for a long time. The presence of a translocation of chromosomal material …

Background Males with a 47, XXY karyotype have the clinical phenotype of Klinefelter
syndrome. A few 47, XXY cases with a female phenotype have been reported. These …

The 46, XX testicular disorder of sex development (46, XX testicular DSD) is a rare
phenotype associated with disorder of the sex chromosomes. We describe the clinical …

Klinefelter syndrome (KS) mosaicism 47, XXY/46, XX/46, XY is an extremely rare disorder.
Mixed connective tissue disorder (MCTD) is a systemic rheumatological disease with …

Background and objectives: XX male syndrome is part of the disorders of sex development
(DSD). The patients generally have normal external genitalia and discover their pathology in …

OBJECTIVE: To describe genetic evaluation and response to surgery and letrozole therapy
of a 46, XX/SRY-negative true hermaphrodite. DESIGN: Case report. SETTING: University …