ESPE Abstracts

Background: cryptorchidism is associated with the high risk of infertility. In some cases it may be the one of the first symptom of congenital hypogonadism. The period of 0 – 6 month of life is a short window for postnatal testicular maturation and the diagnostic of reproductive disorders.Objective: to evaluate the functional condition of pituitary and gonads in mini-puberty boys with bilateral cryptorchidism.<p...

Background: The period of transitory postnatal activation of the hypothalamo-pitutary-gonadal axis (mini-puberty) plays an important role in the testicular maturation.Objective and hypotheses: To evaluate the functional condition of the gonads in 1–3 months boys with cryptorchidism.Method: 40 boys ages 1–3 months with cryptorchidism were examined: group 1–30 boys with unilateral inguinal retention testis and group 2&...

Background: The period of 0–6 month of life is a short window for postnatal testicular maturation and the diagnostic of reproductive disorders.Objective: To evaluate the functional condition of the hypothalamo-pitutary-gonadal axis in 1–3 months boys with cryptorchidism.Method: 51 boys ages 1–3 months with cryptorchidism were examined: group 1–30 boys with unilateral inguinal retention testes and group 2–21...

Background: NR5A1 mutations in DSD patients result in a wide range of clinical manifestations.Objective and hypotheses: To evaluate the clinical variability of ambiguous phenotypes and the gender assignment in DSD patients with SF1 mutations.Method: Clinical examination, hormonal tests, ultrasound, laparoscopy and molecular analyses, including direct and parallel sequencingResults: Case 1. A girl, aged 18 mon...