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Context: Gender assignment followed by surgery and hormonal therapy is a difficult decision in the management of 45,X/46,XY patients with abnormal external genitalia at birth considering the paucity of studies evaluating pubertal development and fertility outcome, most notably for patients raised as boys., Objective: The purpose of this study was to describe the pubertal course of 20 45,X/46,XY patients born with ambiguous genitalia and raised as boys., Methods: This is a multicenter retrospective study., Results: Mean age at study was 25.6±2.4 years. Eighty-five percent of the patients presented a 'classical' mixed gonadal dysgenetic phenotype at birth. Puberty was initially spontaneous in all but three boys, although in six other patients, testosterone therapy was subsequently necessary for completion of puberty. Sixty-seven percent of the remaining patients presented signs of declined testicular function at the end of puberty (increased levels of FSH and low levels of testosterone and/or inhibin B). Moreover, an abnormal structure of the Y chromosome, known to alter fertility, was found in 10 out of 16 (63%) patients. Two patients developed testicular cancer. Half of the patients have adult penile length of <80 mm. Mean adult height is 156.9±2 cm, regardless of GH treatment., Conclusions: In summary, 45,X/46,XY children born with ambiguous genitalia and raised as boys have an altered pubertal course and impaired fertility associated with adult short stature, which should, therefore, be taken into consideration for the management of these patients.

Objective: To determine the clinical characteristics of pubertal metrorrhagia and its treatment, depending on severity; to evaluate the frequency of etiologies and the influence of hemostatic abnormalities; and to describe severe pubertal metrorrhagia. Design, setting and participants. This retrospective study examined all the files (n = 105) of adolescents presenting for pediatric gynecology consultation at a children's hospital between January 1979 and June 1993., Results: The mean age of patients at the first consultation was 13 years. Metrorrhagia began in the year after the first menstrual period in 85% of cases. The causes were functional (83 cases), primary hemostatic disorder (14 cases), hemostatic disorder secondary to renal or hepatic disease (7 cases), or tumor (1 case). The cases were assigned to one of three groups, according to the severity of anemia; group I, mild anemia, hemoglobin Hb > 11 g%, 64 cases; group II, moderate anemia, Hb 8-11 g%, 23 cases; and group III, severe anemia, Hb < 8 g%, 18 cases. Of the 14 patients suffering from primary hemostatic disorders, 7 had been diagnosed before the onset of metrorrhagia; the disorder was revealed by the metrorrhagia in the remaining 7. Only 1 of these patients was severely anemic (known factor X deficiency). Four patients suffering from moderate von Willebrand's disease were discovered after specific tests; they were mildly or moderately anemic. The severe anemias (group III) all occurred during the first three periods. This group had functional disorders in 15 of 18 cases. Treatment continued to be required in 10 of 18 cases followed for more than 3 years. Treatment was progestin for group I and II patients or an estroprogestin, followed by a progestin, for group III. Curettage was never required., Conclusions: The most common cause of pubertal metrorrhagia is a functional disorder (80% of cases). Hemostatic disorders likely to cause severe menstrual hemorrhage were known before the age of menarche; these disorders must be controlled by hormone treatment begun before or at the time of the first menstrual period. Severe forms that arise during the initial three menstrual cycles are functional in most cases. These should be given a course of treatment lasting several years. There is a high risk of recurrence. Treatment is medical and hormonal in all cases.

The purpose of the present study was to report on gonadotropin function and puberty of a large group of children treated by cranial irradiation for cranial and neck tumors and medulloblastoma. Forty-five children of pubertal age were investigated. The mean interval time since radiation was 5 2/12 yr. Gonadotropin and gonadal function were evaluated by clinical criteria, plasma sex steroids, and plasma LH and FSH responses to LRH. Puberty was complete or progressing normally in 31 cases and was abnormal in 14 cases. Severe gonadotropin deficiency, with lack of or slow progression of puberty and decreased LH and FSH responsiveness to LRH, was observed in 5 cases; 2 of these had moderately elevated plasma PRL levels. Secondary amenorrhea or lack of pubertal progression was found in 5 other cases. GH deficiency was associated with gonadotropin deficiency in 9 of these 10 cases. Adrenal function, estimated by basal dehydroisoepiandrosterone, dehydroisoepiandrosterone sulfate, and estrone, was normal according to pubic hair stages. In conclusion, complete or partial gonadotropin deficiency can be the consequence of cranial irradiation in children receiving 6000 rads or less. It is usually associated with GH deficiency. The site of the damage on the pituitary gland or the hypothalamus remains to be demonstrated.