Bilateral anorchia in infancy: occurence of micropenis and the effect of testosterone treatment.

OBJECTIVE: To analyze the clinical and histological findings in boys with bilateral anorchia and the response to testosterone treatment on penis length. STUDY DESIGN: Patients were divided into two groups according to the absence (group A, n = 29) or the presence (group B, n = 26) of palpable intrascrotal or inguinal mass at first clinical examination. RESULTS: A micropenis was found in 46% of patients (n = 24) with a similar proportion in both groups. Testosterone treatment induced a mean penis length gain of 1.9 +/- 1.3 SDS (standard deviation score). However, micropenis persisted in six patients. Histological examination (n = 18) confirmed the absence of any testicular structure with deferent ducts being present unilaterally or bilaterally in all but three patients. In these three patients, a hemorrhagic testis, probably as a result of a mechanical torsion, was found. CONCLUSIONS: The presence of isolated micropenis in almost half of patients with bilateral anorchia strongly suggests that the testicular damage frequently occurs during the second half of gestation after male sexual differentiation. In most cases, testosterone treatment stimulates the penile growth. Although the pathogenesis of bilateral anorchia may be heterogeneous, our study suggests that gonads may have been functionally abnormal before they disappeared, and suggests that some patients have an intrinsic endocrine disorder.

True hermaphroditism: genetic variants and clinical management.

The diagnosis and management of 22 patients with true hermaphroditism are described. Sixteen of them were first seen before the age of 4 months. The initial manifestations were ambiguous genitalia in 20 cases (two of them identified prenatally by ultrasound examination), isolated clitoromegaly in one, and penile hypospadias plus unilateral cryptorchidism in one. All patients but one had at least one palpable gonad. Eleven of the twelve patients examined before the age of 6 months had basal plasma testosterone levels > 0.4 ng/ml. In older patients the stimulation test was necessary to demonstrate male testosterone secretion. The most common peripheral karyotype was 46,XX (17 cases); the other karyotypes were 47,XXY (1 case) and mosaicism 46,XX/46,XY (2 cases) or 46,XX/47,XXY (2 cases). One of the patients with the 46,XX karyotype had 46,XX/46,XY on fibroblast culture; four had the SRY gene in their leukocytes and one in the tissue taken at gonadal biopsy. A vagina was found in all patients at laparotomy, and a uterus was found in 17 cases (as a hemiuterus in 9). Genitography failed to demonstrate a uterus in only one case. The testicular tissue was dysgenetic but the ovarian tissue was normal. Sex assignment was male in 8 patients (reoriented by us in 2) and female in 14 patients (reoriented by us in 3). Spontaneous pubertal development occurred in the 4 patients (2 boys, 2 girls) with gonadal tissue who reached pubertal age. We conclude that true hermaphroditism is a heterogeneous condition in terms of its genetic background, with a prevalence of the 46,XX karyotype. There may be mosaicism with a Y-bearing cell line limited to the gonad (its frequency is probably underestimated), a paternal meiotic exchange between X and Y occurring in 46,XX cases with SRY, or a lack of the SRY gene, suggesting that other genes working independently of SRY may also determine testicular differentiation.

Neonatal short bowel syndrome.

In this retrospective study the management of infants who had undergone resection of more than 50% of the small bowel as newborn infants between 1970 and 1988 was analyzed to define prognostic factors. Small bowel resections were performed for atresia (36 cases), volvulus (22 cases), gastroschisis (10 cases), necrotizing enterocolitis (11 cases), and other disorders (8 cases). Patients were classified into two groups depending on the length of residual small bowel: group 1 (n = 35) had less than 40 cm of small bowel and group 2 (n = 51) had 40 to 80 cm of residual small bowel. Patients in group 2 had significantly better survival rates than those in group 1 (92.0% vs 66.6%; p less than 0.001). The patients in group 1 who were born after 1980, when home parenteral nutrition was introduced, had better survival rates than those who were treated before 1980 (95.0% vs 65.0%; p less than 0.01). The time required for acquisition of intestinal adaptation depended on the intestinal length (average, 27.3 months for group 1 and 14 months for group 2; p less than 0.01) and on the presence or absence of the ileocecal valve. Parenteral or supportive enteral nutrition, or both, ensured normal growth in both groups. We conclude that more than 90% of infants now survive after extensive small bowel resection with parenteral nutrition and that the remaining small intestine will adapt with time. Home-based parenteral nutrition allowed children to be treated in the best psychosocial environment.