hrp0082p3-d2-965 | Sex Development (1) | ESPE2014

Mosaicism Ratios of 45,X to 46,X IdicY Explained a Phenotype in a Case with Mixed Gonadal Dysgenesis

Hatano Megumi , Fukuzawa Ryuji , Hasegawa Yukihiro

Background: Patients with mixed gonadal dysgenesis (MGD), whose prototypical karyotype is 45,X/46,XY may manifest complications characteristic of Turner’s syndrome. We here present a 10-year-old male with MGD who had coarctation of aorta. At birth, he was found to have hypospadias, bifid scrotum and cryptorchidism. Chromosomal analysis of lymphocytes revealed a karyotype of 46,X idic Y (23)/45,X (7). Left gonadectomy was performed in infancy and the removed gonad showed s...

hrp0084p2-311 | DSD | ESPE2015

The Localisation of Cells with XX and XY in Gonadal Tissues Associated with Ovotesticular Disorder of Sexual Development with a 46,XX/46,XY Karyotype

Nishina Noriko , Fukuzawa Ryuji , Ishii Tomohiro , Hasegawa Tomonobu , Hasegawa Yukihiro

Background: Individuals with a mixed 46,XX and XY karyotype, categorized as ovotesticular disorder of sexual development (ODSD), have gonads with either an ovary in one side and a testis in the other side or an ovotestis.Objective and hypotheses: This study aimed to investigate the relationship between sex chromosomes and testicular and ovarian cell types in gonadal tissues associated with ODSD patients with 46,XX/46,XY.Method: Gon...

hrp0084p2-432 | Gonads | ESPE2015

A Perioperative Change of Anti-Mullerian Hormone and E2 in a Patient with Sex Cord Tumour with Annular Tubules

Shimada Aya , Takagi Masaki , Miyai Kentaro , Fukuzawa Ryuji , Hasegawa Yukihiro

Background: Sex Cord Tumour with Annular tubules (SCTAT) is a rare ovarian benign tumour accounted approximately for 5% of ovarian tumour. SCTAT is an oestrogen producing ovarian tumour and can cause precocious puberty. For SCTAT, oophorectomy is recommended as the first-line therapy. Since SCTAT has a high rate of recurrence, it is clinically important to find a monitor method that can detect cancer recurrence in an early stage. In the previous reports, E2 and anti-mullerian ...