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Abstract

This paper reviews the outcome in 12 children with hyperinsulinaemic hypoglycaemia who first developed symptoms between the ages of 2 and 8 months and who were treated with diazoxide (5 - 20 mg/kg/day) for 2-13 years. Two cases required subtotal pancreatectomy at the ages of 5 and 10 years because of recurrent hypoglycaemia and one girl with severe retardation died at the age of 6 years while still on diazoxide therapy. Two patients aged 3.5 and 9 years are still on treatment and in 7 cases diazoxide was discontinued between the ages of 2.5 and 14 years, indicating that spontaneous remission can be expected in a high proportion of children with post-neonatal hyperinsulinaemic hypoglycaemia. Of the 9 children who started diazoxide within 3 months of the onset of symptoms, 5 are of normal intelligence and 4 are moderately retarded (IQs 63-71). In 3 children diazoxide was started 8 months to 3 years after the onset of symptoms; two are retarded (IQs 60-70) and the third was severely retarded and died aged 6 years.

Yoshibayashi M, Kamiya T. Saito Y. Nakao K, Nishioka K, Temma S, Itoh H, Shirakami G, Matsuo H. Plasma brain natriuretic peptide concentrations in healthy children from birth to adolescence: marked and rapid increase after birth. Eur J Endocrinol 1995;133:207–9. ISSN 0804–4643

The aim of the present study is to establish the normal range and to determine the developmental changes of plasma brain natriuretic peptide (BNP) concentrations in children. We measured plasma BNP concentrations as well as atrial natriuretic peptide (ANP) concentrations in 58 healthy children from birth to adolescence and in the umbilical vein of 20 healthy neonates using highly sensitive immunoradiometric assays. The plasma BNP concentration was the highest at 0 days of age and descended through maturation to be almost constant and to be at the adult level at 3 months of age. The plasma BNP concentration at 0 days of age (56.7 ± 49.6 fmol/ml; mean±sd) was 25 to 30 times higher than the adult level and 21 times higher than that in the umbilical vein (2.7 ± 1.4fmol/ml), The plasma ANP concentration at 0 days of age was not significantly different from that in the umbilical vein. The ratio of BNP to ANP was also the highest at 0 days of age (1.39 ± 0.72) and decreased through maturation to be at the adult level at 3 months of age. Thus, the plasma BNP concentration in healthy subjects showed a marked, rapid and preferential increase immediately after birth, suggesting that BNP has a physiological role distinct from that of ANP in the perinatal circulatory changes from fetus to neonate.

Muneo Yoshibayashi, Department of Pediatrics, National Cardiovascular Center, 5-7-1 Fujishirodai, Suita, Osaka 565, Japan

ABSTRACT

Urinary testosterone glucuronide and sulphate was determined separately by gas chromatography in 39 newborns and young infants (34 males and 5 females). In all cases, testosterone sulphate was higher than glucuronide. Boys excreted more of both conjugates (sulphate 6.7, glucuronide 2.2 μg/24 h) than girls (1.1 and 0.7 μg/24 h, respectively). Boys older than 3 weeks had higher values than boys younger than 2 weeks. The levels correlated positively with chronological age, negatively with the gestational age and not at all with the bilirubin levels. It is concluded that testosterone is excreted preferentially as the sulphate in the newborn period and that the high sulphokinase activity in foetal and neonatal testes is more likely responsible for this phenomenon than an impaired glucuronizing capacity of the liver.

Lazar L, Kauli R, Bruchis C, Nordenberg J. Galatzer A, Pertzelan A. High prevalence of abnormal adrenal response in girls with central precocious puberty at early pubertal stages. Eur J Endocrinol 1995;133:407–11. ISSN 0804–4643

Abnormal adrenal response is often observed in girls with precocious adrenarche (1). We studied the adrenal response in 112 girls with idiopathic true central precocious puberty (CPP) at early stages of puberty compared to that in 21 girls with normal puberty (controls). The aims of this study were to determine the prevalence of abnormal adrenal response at early stages of puberty, the possible correlation of abnormal adrenal response with pubertal signs at onset of puberty and with plasma androgen levels, and a possible association with the activity of the hypothalamic-pituitary-gonadal (HPG) axis. All participants underwent a combined iv adrenocorticotropic hormone (ACTH)gonadrotropin-releasing hormone (GnRH) test at Tanner stage 2-3: 62 of the CPP girls before and 50 during treatment with GnRH analog. The stimulated levels of 17-hydroxypregnenolone (17OHPreg) and the stimulated 17OHPreg/17-hydroxyprogesterone ratio were analyzed and compared to previously reported norms. The result revealed three patterns of adrenal response: normal (17OHPreg ⩽24 nmol/l and 17OHPreg/17OHP ratio ⩽7) in 50/112 (44.6%) CPP patients and 17/21 (80.9%) controls; exaggerated (17OHPreg> 24 nmol/l, 17OHPreg/17OHP ratio ⩽ 7) in 50/112 (44.6%) CPP patients and 3/21 (14.3%) controls; and non-classical 3β-hydroxysteroid dehydrogenase deficiency (17OHPreg> 24 nmol/l and 17OHPreg/17OHP ratio > 7) in 12/112 (10.8%) CPP patients and 1/21 (4.8%) controls. The clinical features at onset of puberty were comparable in all girls with the CPP in spite of the different adrenal response patterns. The levels of androstenedione and testosterone were within normal range in all cases. Dehydroepiandrosterone sulfate was significantly elevated only in 3β-hydroxysteroid dehydrogenase deficiency, 4.8 ± 2.7 (p < 0.03) as expected. The adrenal response was not affected by GnRH analog therapy. In conclusion, an abnormal adrenal response was found in 55.4% of girls with CPP in early puberty. This response did not cause clinical signs and laboratory findings of a hyperandrogenic state at early stages of puberty and was not affected by the activity of the HPG axis. Its role in evoking precocious puberty remains to be explored further.

A Pertzelan, Institute of Adolescent Endocrinology, Children's Medical Center of Israel, Beilinson Medical Campus, Petah Tiqva 49202, Israel

Abstract

In 3 groups of 8 children and adolescents each 1) with Prader-Willi-Labhart's Syndrome (PW-S), 2) obese patients matched for body weight (control I), and 3) normal weight subjects matched for pubertal stage (control II) plasma concentrations of melatonin, cortisol, growth hormone (hGH), insulin, gonadal hormones, and gonadotropins were measured every 1 to 4 hours in 24-hour-profiles. All hormones were determined by radioimmunoassay. The specific melatonin antibody was raised in rabbits. Criteria of the melatonin assay were as follows: detection limit for plasma concentrations of 13 pg/ml, intraassay and interassay variations: 8.4 and 11.2 %, respectively.

PW-S-patients showed cortisol fluctuations within normal limits. hGH was lower than 5 μg/l even during sleep, insulin ranged between 5 and 17o mU/l, and no excessively high glucose levels were found. Estradiol and testosterone were low for age and for pubertal development in all patients except in two girls. Basal LH and FSH levels were in the low normal range and showed sluggish response to LHRH. Plasma melatonin was low during the day, increased at mid-night and peaked at 3 a.m. Melatonin levels in PW-S were not significantly different from those in both control groups. We concluded that the impairment of gonadotropin secretion in patients with PW-S is not due to elevated levels of plasma melatonin.

Abstract. We investigated the value of serum levels of adrenal steroids (dehydroepiandrosterone sulphate, testosterone, 17-hydroxyprogesterone, cortisol) in the identification in peripubertal females with late-onset congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Among 68 females (age 3–18 years) with virilization in childhood, peripubertally or postpubertally, we selected 21 girls for an ACTH test by measurement of basal blood-spot or serum 17-hydroxyprogesterone (17-OHP) levels. Eight of 21 patients had supranormal post-ACTH serum 17-OHP concentration (57–153 nmol/l) with low normal cortisol concentration. All of them had supranormal basal and post-ACTH 17-OHP to cortisol ratios. These data show a relatively high incidence (about 12%) of mild 21-hydroxylase deficiency among prepubertal and adolescent girls with virilization. It is concluded that the first step in the investigation of peripubertally virilized girls should be the determination of serum 17-OHP and cortisol. Patients with basal morning 17-OHP concentration and 17-OHP to cortisol ratio above reference range should be given an ACTH test.

ABSTRACT

A parallelism in the incidence of human and bovine goitre in the northern part of Israel is described.

Among 1475 children and adolescents from 8–18 years of age of both sexes and examined from Upper Galilee an average incidence of goitre of more than 10% was found.

A three years follow up study showed an increase in percentage of goitre to 30% among girls. No cretins or deaf or dumb subjects were found.

Thyroid weights of 385 heads of cattle slaughtered at the slaughter-houses or on the farms were determined. While the mean weight of thyroids of cattle from a non-endemic control area was 17.7 g the mean weight for the goitrous area attained 23.4 g. The mean relative thyroid weights for the control and goitrous areas were 3.75 and 6.98 g/100 kg respectively. The histopathological examination of several excised non selected thyroids from Upper Galilee showed pathological findings: hyperplasia, fibrosis, nodular goitre.

These data are the first evidence of the incidence of endemic goitre of cattle in Israel and suggest most strongly that here the unfavourable environment plays a decisive role among the factors which influence the weight of bovine thyroids.