Longitudinal study of plasma testosterone in male pseudohermaphrodites during early infancy.

Plasma testosterone was longitudinally studied during the first months of life in 7 XY infants with male pseudohermaphroditism. In two, the physiological postnatal rise of plasma testosterone was absent or blunted. A combined adrenal and testicular enzymatic defect was demonstrated in these two boys.

[Neonatal screening of congenital hypothyroidism. Introduction].

Neonatal screening of congenital hypothyroidism will be generalized in France during the next year, after it has been experienced in three regional areas. The data obtained from these experiences have shown that TSH assay is probably the safest way to detect most cases of thyroid failure in newborns. The Round Table organized by the Societé Française d'Endocrinologie has given opportunity to discuss previous trials and their results, and to prepare the large-scale organization of this new progress in preventive medicine.

[Congenital adrenal hyperplasia due to blockade of 3-beta-hydroxysteroid dehydrogenase].

Five cases of congenital 3 beta-hydroxysteroid deshydrogenase deficiency in children are reported: four boys with perineal posterior hypospadias and one girl with clitoromegaly. The salt losing syndrome was clinically overt in only three patients. The main biological character was the very high level of plasma dehydroepiandrosterone (DHA) with an elevated DHA/delta 4 androstenedione ratio.

[Acanthosis nigricans, hirsutism and insulin-resistant diabetes].

Three girls, two of them being monozygotic twins, are affected with acanthosis nigricans and hirsutism, which worsened at the time of their puberty. The first one has primary amenorrhea and the twins complain of spaniomenorrhea. Furthermore, laboratory data concluded to diabetes, hyperinsulinism and resistance to insulin.

[Insufficiency of penis development (micropenis). Etiological data in a series of 25 cases].

The diagnosis of micropenis was made in 25 boys aged 1 month to 16 years. This abnormality was associated with hypothalamic-pituitary deficiency in 12 boys (hypogonadotrophic hypogonadism, hypopituitary growth failure, Prader-Willi syndrome), with testicular disorders in 5 boys (anorchia, testicular dysgenesis). In the other 8 the micropenis was an isolated finding but the testicular response to HCG and the LH response to LHRH was significantly reduced (p less than 0.

[Growth retardation in histiocytosis X. Evaluation of anterior pituitary function (author's transl)].

Among six patients with histiocytosis X of long duration and growth retardation of 3 to 4 standard deviations, three had a blunted growth hormone response to stimulation tests, associated to diabetes insipidus. In two of these three children there was a partial catchup of growth without treatment by human growth hormone. The causes and mechanisms of growth retardation in histiocytosis X, the influence of hydroelectrolytic disorders on growth in these patients and their need for treatment with human growth hormone are discussed.

Reduced post-natal rise of testosterone in plasma of cryptorchid infants.

Plasma testosterone has been studied in 31 full-term male infants born with bilaterally undescended testes (14) or unilaterally undescended testis (17). From 10 to 89 days after birth, the post-natal testosterone rise was significantly lower in the 18 infants who remained cryptorchid at 4 months than in the 13 who underwent spontaneous testicular descensus and in the normal controls. Blunted post-natal Leydig cell secretion in cryptorchids may relate to a primary LH defect and could contribute to the impairment of both testicular descensus and maturation.

[Evaluation of thyroid function in children (author's transl)].

Two main methods must be used in every case for evaluation of thyroid function in children : measurement of plasma thyroxin T4 and thyroid scanning with technetium. If accurately done, they may be sufficient for practical purposes. However, the wide number and variety of methods available for thyroid evaluation offers to pediatricians a choice sometimes difficult.

Variations of serum testosterone estradiol binding globulin (TeBG) binding capacity in infants during the first year of life.

Serum TeBG binding capacity was measured in 8 cord blood samples, and in peripheral venous blood from 39 male and 31 female infants aged from 1 day to 1 year. In cord blood, TeBG binding capacities were low (1.27 +/- 0.

[Del (13) (q33). Exclusion of esterase D (ESD) from 13q33 and q34].

A de novo del (13) (q33) was found in a 14-month-old boy with hypospadias. Phenotype anomalies included growth retardation, psychomotor retardation (QD = 64), microcephaly with brachycephaly, a round, flat and asymmetrical facies, a normal nose bridge, a small, pointed chin. The patient is heterozygous ESD 2-1.

Correlative study of radioreceptor assay and radioimmunoassay of serum growth hormone in children. II: Primary, genetic and intra-uterine growth retardation.

Growth hormone (GH) was measured by radioreceptorassay (RRA) and radioimmunoassay (RIA) in the sera of 24 children with idiopathic primary growth retardation (PGR), 15 with genetic short stature (GSS) and 11 with intra-uterine growth retardation (IUGR), and compared to results obtained in normal children. The average RRA/RIA ratio was close to normal in PGR (1.02 +/- 0.

Hypothalamo-pituitary-gonadal function in male central precocious puberty.

Eleven boys aged 1-10 years with central precocious puberty were studied. According to the pubertal development six were classified as P2, one as P3 and four as P5. In all cases plasma testosterone levels were definitely elevated (1.

[Measurements of the sella turcica in idiopathic hypophyseal nanism].

The size of the sella turcica was measured in 66 cases of so-called idiopathic hypopituitary dwarfism, and compared to Silverman's standards. In 55 % of patients the sella was abnormally small for age, and in 45 % abnormally small for height. No significant differences were found from male to female patients nor from isolated somatotropic deficiencies to multiple tropic hormones deficiencies.

[Endocrine data in cryptorchism].

Endocrine evaluation with LH-RH (0.1 mg/m2) and chorionic gonadotrophin (HCG 3 X 1,500 I.U.

Endocrine studies in male pseudohermaphroditism in childhood and adolescence.

The clinical and endocrine features of fifty cases of male pseudohermaphroditism and XY karyotype aged from 6 months to 20 years have been studied. Thirty-two subjects were pre-pubertal and eighteen, of whom ten developed gynaecomastia, were pubertal. A definite aetiology was established in 12%.

[Etiology and associations of pituitary dwarfism. Study of a series of 135 cases].

Among 135 consecutive cases of hypopituitary dwarfism, 42 related to detectable intracranial tumour or defect. In 13 cases the tumour had been previously operated and/or irradiated. In 29 others the defect was suggested by neurological abnormalities or headache, skull radiographs, ocular examination or by associated post-hypophyseal deficiency and was demonstrated by pneumoencephalography.

[Weights and heights of newborn infants with hypothyroidism].

Among 166 congenitally hypothyroid children, 30% had a birth weight over the 90 degrees percentile of normal newborns, and 17% of those born after a full-term gestation weight 4000 g or more. The birth length was known in 84 cases and was not different from normal standards. An excess of birth weight relatively to birth length must suggest, among other factors, the possibility of congenital hypothyroidism.