title: Spontaneous ovulation in a true hermaphrodite with normal male phenotype and a rare 46,XX/47,XXY Klinefelter's mosaic karyotype.
abstract: BACKGROUND
  Most true hermaphrodite patients--characterized by the presence of both ovarian and testicular tissue--demonstrate ambiguous genitalia and are diagnosed at birth, most commonly bearing a 46,XX karyotype.
  
  
  METHODS
  We report on a 13-year-old boy presenting with left scrotal hemorrhage. He had a left inguinal hernia, a palpable testis in the right, normal male external genitalia and significant gynecomastia. During operation, the left gonad and adjacent tissue were removed for histological examination, which revealed the presence of a normal ovary, rich in follicles and a ruptured corpus luteum, suggestive of spontaneous ovulation, with a normal ipsilateral adnexa and semi-uterus. Biopsy of the right gonad revealed a dysgenetic testicle. Endocrinological assessment postoperatively depicted high FSH, pubertal testosterone and low estradiol levels. Cytogenetic analysis in peripheral blood lymphocytes and FISH of the right gonad revealed a 46,XX (70-60%)/47,XXY (30-40%) karyotype, respectively, while molecular analysis verified the presence of SRY and azoospermia factor genes.
  
  
  CONCLUSIONS
  The importance of full histological, cytogenetic and molecular investigation and of interdisciplinary approach in every single patient with sex differentiation disorders is highlighted by this rare case of spontaneous ovulation in a true hermaphrodite with normal male external genitalia and Klinefelter mosaicism.
authors: 1st Department of Pediatrics, University of Athens, Agia Sophia Children's Hospital, Thivon and Levadias, Goudi, Athens, Greece. ganten@hol.gr
authors: Ch
authors: Ch
authors: Kanaka-Gantenbein
authors: E
authors: E
authors: Papandreou
authors: K
authors: K
authors: Stefanaki
authors: H
authors: H
authors: Fryssira
authors: A
authors: A
authors: Kolialexi
authors: C
authors: C
authors: Sophocleous
authors: A
authors: A
authors: Mavrou
authors: S
authors: S
authors: Kitsiou-Tzeli
authors: G P
authors: GP
authors: Chrousos
mesh_terms: D005260:Female; D006801:Humans; D007713:Klinefelter Syndrome / Q000473:pathology / Q000503:physiopathology*; D008297:Male; D009030:Mosaicism; D010053:Ovary / Q000473:pathology; D050090:Ovotesticular Disorders of Sex Development / Q000473:pathology / Q000503:physiopathology*; D010060:Ovulation