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 …

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 …

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 …

Nine newborns and infants with sex ambiguity and congenital adrenal hyperplasia (CAH)
were analysed for the presence of the testis-determining factor (TDF). They required an …

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 …

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 …

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 …

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 …

To explore the clinical features and assisted reproductive technology (ART) outcomes of 46,
XX disorders of sex development (DSD) males, 144 males with 46, XX DSD were recruited …