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Reproductive health of men has declined over time including reduced semen quality specifically sperm count, increased incidence of infertility, and testicular cancers. Our recent findings suggest that these disease states possibly arise as a result of disruption of testicular stem cells biology by perinatal insults including exposure to endocrine disrupting chemicals. Testicular stem cells include relatively quiescent, very small embryonic-like stem cells (VSELs), and actively dividing spermatogonial stem cells (SSCs). Both VSELs and SSCs express estrogen receptors and are directly vulnerable to endocrine disruption. Exposing mice pups to estradiol (20 μg/pup/day on days 5-7) or diethylstilbestrol (2 μg/pup/day on days 1-5) affected spermatogenesis during adult life with reduced numbers of tubules in stage VIII, tetraploid cells and sperm. These mice were infertile and majority of diethylstilbestrol treated mice revealed testicular cancer-like changes. An increase in VSEL numbers, observed by both flow cytometry and qRT-PCR, was associated with marked reduction of c-KIT positive spermatogonial cells. VSELs undergo epigenetic changes due to endocrine disruption that results in blocked differentiation (impaired spermatogenesis) leading to reduced sperm count and infertility, and their excessive self-renewal initiates cancer-like changes in adult life. Thus, testicular dysgenesis syndrome (TDS) has a stem cell rather than a genetic basis.

A 15-month-old boy was discovered to have internal female genitalia during an operation for bilateral inguinal hernia. The biopsies showed normal testicular tissue and the karyotyping result was 46XY, so the diagnosis of persistent mullerian duct syndrome (PMDS) was made. At the second operation, the uterine fundus and fallopian tubes were excised. Then, he underwent bilateral orchiopexy. We discuss a rare presentation of this disorder, its management, and genetic implications together with a review of the literature.

A retrospective study was performed between 1985 and 1994 on paediatric patients operated for asymptomatic intrascrotal or testicular palpable masses. Tumour was suspected in each case and it was surgically explored. Twenty-six children were affected, their age ranging between 9 days and 14 years. In 11 cases testicular torsion, in 4 epididymitis and in another 2 dystrophic calcification were found. Tumours, including rather rare alterations, were observed in only 9 children. The present results draw attention to the tumour-like occurrence of testicular torsions and other benign alterations of the scrotum.

Pituitary stimulation tests with arginine, gonadotropin-releasing hormone (GRH) and thyrotropin-releasing hormone (TRH) were performed in five 45, XO patients with Turner's syndrome. Their ages ranged from 12--17 years. Serum levels of LH, FSH, PRL, HGH, and TSH were measured by RIA. The hypothalamo-pituitary system appeared normal in the patients with Turner's syndrome.

There is a need for early diagnosis and classification of different forms of intersex in children. Biochemical disorders lead to deviations of the normal fetal sex determination. Development anomalies can be generally classified as aberrations of the development of the ovaries (Pseudohermaphroditismus femininus) and abnormalities of the development of the testes (Pseudohermaphroditismus masculinus). Based on a preliminary clinical diagnosis of sexual ambiguity, analytical methods such as chromosome analysis, detection of sex hormones and their metabolites in serum and urine and the determination of hormone-patterns in the skin of the external genitalia are of great importance. Diagnosis of the proper sex may be considered a medical emergency because of the serious psychologic problems for the parents and the child, if sex is errouneously or oncertainly assigned. Diagnosis should be completed within the first few prenatal months of an intersex child in order to schedule a therapy that will determine it's life. Therapy is primarily based on administration of androgenizing or progestional substances and surgical interventions. Additional psychotherapeutic treatment should start in the early formative childhood years to allow a normal cognitive development and maturation of the child according to it's sexual identity.