Ovotesticular Disorder of Sexual Development and Non-Palpable Testis.

Disorders of sexual development (DSD) refers to a group of diseases that links the mismatch between an individual's genetic and gonadal development and its phenotype. Ovotesticular DSD (true hermaphroditism) is one such disease, in which both male and female gonads are present. A 15-year-old boy with a history of surgery for non-palpable testis was examined due to bilateral gynecomastia and known gonosomal mosaic of Klinefelter syndrome. The external genital was matured as male and, in the left half of the scrotum, there was a testicle of normal size. Despite uncertain resistance on the right side, however, the right testis was not palpable. Revision of the right groin revealed a surprising finding in the form of an ovary with a dilated fallopian tube, both of which were completely removed. Surgical revision of the left testis with biopsy was performed. The surgery was completed with a bilateral mastectomy. The postoperative course was uncomplicated, and the boy is content and fully integrated into his peer group. True hermaphroditism is a rare type of DSD. In the case described, DSD was not exhibited until puberty, after an examination for gynecomastia. The case also confirms the necessity of clarification and long-term follow-up of patients with unclear findings during surgery for non-palpable testis. Diagnostic laparoscopy is clearly indicated in these situations.

Idiopathic vs. secondary retroperitoneal fibrosis: a clinicopathological study of 12 cases, with emphasis to possible relationship to IgG4-related disease.

Retroperitoneal fibrosis (RF) is a rare disease characterized by inflammation and fibrosis of retroperitoneal soft tissues. It is classified into two types: idiopathic (iRF) and secondary (sRF). The aim of the study was to investigate the relationship between iRF and IgG4-related disease (IgG4-RD) and to eventually extend the clinicopathological features of this condition by analysis of the sample comprising six iRF and six sRF patients. The iRF patients included four males and two females, aged 12-62 years (median 55 years). Two lesions were periaortic, one was periureteral, and three cases showed both periaortic and periureteral localization. Two patients had increased serum levels of IgG4. None of the patients developed any manifestation of IgG4-RD during the follow-up period ranging for 15-133 months (median 43 months). Microscopically, in two iRF cases, fibrosis was highly cellular encircling the vessels, nerves, and paraganglia. Phlebitis was found in all cases and being obliterative in four. Lymphocytic inflammation with formation of follicles and plasma cell infiltration were scored as severe in five iRF cases. The numbers of IgG-positive plasma cells ranged 0-373 per 1 HPF (high power field; median 132) and of IgG4-positive plasma cells 0-238 per 1 HPF (median 91). The IgG4/IgG ratio values ranged 0.38-0.74 (median 0.68). Two of the iRF cases were diagnosed as definite and three cases as probable IgG4-RD. To the contrary, none of the sRF cases met the diagnostic criteria for either definite, probable, or possible IgG4-related disease. Our results indicate that a substantial portion of iRF cases, including some of very rare pediatric cases, is a manifestation of IgG4-RD.