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Biomedical subjects

A Prader

Publications and source records attributed to A Prader.

At least 37 records · Page 2Linked to original sources
PubMed1988

[Indications for the surgical intervention in endocrine disorders of the ovaries].

Endocrine disturbances of the ovaries with indication for surgery are rare. They require close cooperation between paediatric endocrinologist and paediatric surgeon. Clarification is mainly based on endocrinological findings and ultrasound examination of the ovaries. The following disturbances are discussed: Central (genuine and peripheral or pseudo-) precocious puberty, hormonally active ovarian tumours and cysts, the various forms of dysgenesis of the gonads, especially tumour-prone mixed gonadal dysgenesis with XO/XV karyotype, the syndromes of polycystic ovaries, and girls who grew up as boys with male external genitals.

Adolescent↗
PubMed1988

Effects of the long-acting somatostatin analogue SMS 201-995 in an infant with intractable diarrhea.

The long-acting somatostatin analogue SMS 201-995 was administered to a six-month-old infant with intractable diarrhea after failure of conventional treatment. During eight weeks of treatment, the secretory component of the diarrhea was positively influenced with a reduction of daily stool weight and stool sodium concentration. Plasma levels of growth hormone were markedly, and levels of insulin, IGF I, gastrin, pancreatic polypeptide, VIP, and neurotensin moderately decreased. Linear growth was also inhibited. The patient unexpectedly died from fulminant colitis at a time, when the dosage had been reduced from 18 to 3.5 micrograms/kg/day. The relationship, if any, between therapy with SMS 201-995 and the colitis remained unclear. It is concluded that SMS 201-995 can be effective in reducing secretory diarrhea in infants. However, further studies are necessary to assess the safety of its administration in this age group.

Antidiarrheals↗
PubMed1987

The ulnar-mammary syndrome: an autosomal dominant pleiotropic gene.

A family is described in which four male patients spanning three generations present a consistent clinical entity, the major features of which include: ulnar finger and fibular toe ray defects; delayed growth and onset of puberty, obesity, hypogenitalism and diminished sexual activity; hypoplasia of nipples and apocrine glands with subsequently diminished ability to perspire. Additional findings in single cases include pyloric, anal and subglottic stenosis. To date, another 12 patients in three families have been described with this syndrome. The condition appears to be inherited as an autosomal dominant trait with full penetrance and highly variable expression.

Abnormalities, Multiple↗
PubMed1987

Growth hormone response to a standardised exercise test in relation to puberty and stature.

Growth hormone (GH) was measured before and 10 minutes after a standardised bicycle exercise test (duration 15 minutes) in 37 short children (group 1: mean (SD) age 12.8 (3.5) years; mean (SD) bone age 10.4 (3.6) years; mean (SD) height standard deviation score (SDS) -2.8 (0.7], 16 tall children (group 2: mean age 12.9 (2.8) years; mean bone age 13.9 (1.4) years; mean height SDS 3.0 (0.8], and 30 normal children (group 3: mean age 13.3 (3.2) years; mean bone age 12.8 (3.4) years; mean height SDS -0.4 (0.8]. Results of GH are expressed as mean (SEM). The pre-exercise GH was similar in the three groups (group 1, 8.0 (2.3) mU/l, group 2, 8.5 (2.5) mU/l, and group 3, 8.3 (2.3) mU/l). There was a significant rise in GH after exercise in all three groups. GH after exercise was higher in group 2 (35.1 (2.5) mU/l) compared with groups 1 and 3 (17.8 (3.0) and (20.8 (3.2) mU/l). Post-exercise GH was less than 10 mU/l in 29 children (34% total; 49% group 1, 6% group 2, and 34% group 3). There was a positive relation between post-exercise GH and both bone age and public hair stage. Multiple regression analysis revealed that relevant predictors of a rise in GH with exercise were different for the sexes in these children with varying stature: for boys, bone age and pubic hair stage; for girls, height and height SDS. All the tall girls were in puberty. No statistical relation was observed between post-experience GH and cardiovascular response to exercise, time of day of exercise, time of eating before exercise, and plasma insulin or insulin to glucose ratio at time of exercise. We conclude that the GH response to the physiological stimulus of exercise is higher in puberty compared with childhood. Therefore, although children may be suspected of having GH deficiency after a failure of GH to increase after exercise, a non-response may be a normal finding in prepubertal children, independent of stature.

Adolescent↗
PubMed1987

Transient ovarian testosterone and androstenedione hypersecretion: a cause of virilization or premature pubarche in prepubertal girls.

In 2 girls with signs of androgen overproduction, the usual causes were excluded. Patient 1 (3.6 years) presented with hypertrophy of the clitoris, patient 2 (7.8 years) with pubic and axillary hair. Urinary steroids and plasma dehydroepiandrosterone, 17-hydroxyprogesterone and estradiol were normal, but testosterone and androstenedione elevated in both cases. Echography showed polycystic ovaries. Testosterone and androstenedione returned to normal after laparotomy and removal of ovarian cysts in patient 1, and spontaneously in patient 2, in whom puberty started later appropriately for bone age.

Androstenedione↗
PubMed1987

Lack of bromocriptine-induced reduction of predicted height in tall adolescents.

Fifteen girls and five boys with excessive predicted adult height (chronological age, 10.1-14.6 yr; bone age, 11.0-14.0 yr) were treated with bromocriptine (two doses; 2.5 mg/day) to reduce their final height. After a mean treatment period of 1.14 yr (range, 0.6-1.75 yr) we did not find a reduction of predicted adult height [difference, -0.5 +/- 3.5 (+/- SD) cm according to Bayley and Pinneau's tables (P = NS) and +0.2 +/- 2.5 (+/- SD) cm according to the method of Tanner (P = NS)]. Mean peak plasma GH concentrations after TRH administration before and during bromocriptine were 51.5 +/- 49.4 and 58.5 +/- 50.7 mU/L, respectively. The wide range of the GH values may be explained by physiological variation in this age group. After ingestion of 2.5 mg bromocriptine a significant increase in plasma GH occurred within 3 h in six adolescents tested. Our results do not support the concept that bromocriptine may reduce predicted adult height in tall adolescents by decreased GH secretion or acceleration of skeletal maturation.

Adolescent↗
PubMed1987

Comparison of two tests to recognize or exclude 5 alpha-reductase deficiency in prepubertal children.

Plasma testosterone (T, nmol/l) and dihydrotestosterone (DTH, nmol/l) were measured in 54 children and young adults with male pseudohermaphroditism (46XY, no defect of steroid biosynthesis) 4 h after im injection of testosterone propionate (25 mg/m2, group 1, N = 18), or before and 2, 4 and 6 days after hCG (5000 IU/m2 im, group 2, N = 36). The response to hCG was also studied in 5 control children (unilateral cryptorchidism, group 3) and that to testosterone propionate in a gonadectomized child with confirmed 5 alpha-reductase deficiency. Mean T (133.1 +/- 14.0, SEM) and DHT (17.1 +/- 2.6) in group 1 were higher than in group 2 (17.3 +/- 2.1 and 2.9 +/- 0.4), but there was not significant difference in the T/DHT ratios (group 1: 10.7 +/- 2.0; group 2: 7.2 +/- 0.6). Following testosterone-propionate, there was a negative correlation of T with age (r = -0.723). After hCG, T and DHT were lower in the prepubertal children than in those under 2 or over 10 years, and the T/DHT-ratio rose with age. Two children from group 1 had a T/DHT-ratio above 18, but urinary aetiocholanolone/androsterone (Ae/A) ratios were normal. In the child with 5 alpha-reductase deficiency, the T/DHT ratio was 60, and the urinary Ae/A ratio high. We concluded that the two tests are suitable for confirming or excluding 5 alpha-reductase deficiency in prepubertal children, in whom basal DHT is too low for evaluation, but that physiological age-related changes in 5 alpha-reductase activity have to be taken into consideration.

3-Oxo-5-alpha-Steroid 4-Dehydrogenase↗
PubMed1987

Pubertal development in girls. Variability and interrelationships.

Concerns about somatic disturbances of pubertal development are most frequently due to the large variability in normal growth and development patterns which occur during this age period. This article provides data on the normal variation of the following aspects of pubertal development: secondary sex characteristics, height growth, and menstrual cycles. In addition, clinically relevant interrelationships between the appearance of pubertal signs, height growth and bone age are discussed. The data presented are based on the First Zurich Longitudinal Study.

Adolescent↗
PubMed1987

[Somatic puberty development in girls].

In 142 Swiss girls of the First Zurich Longitudinal Study. The somatic pubertal development between 9 and 18 years is described. The mean chronological age at the onset of the pubertal growth spurt was 9.6 years (standard deviation 1.2 years). The peak of the pubertal growth spurt (peak height velocity: PHV) was reached at a mean age of 12.2 years (SD 1.0). The development of pubic hair started at a mean age of 10.4 years (SD 1.2), breast development at 10.9 years (SD 1.2) and the development of axillary hair at 12.0 years (SD 1.1). Menarche occurred 2.7 years (SA 1.1) after the initiation of pubic hair development and 2.2 years (SD 1.1) after the breast development had started. Menarche was noted at a mean age of 13.4 years (SA 1.1). At menarche the mean height was 156.9 cm (SD 6.3), the mean weight 45.5 kg (SD 6.8) and the mean bone age (according to Greulich and Pyle) 12.6 years (SD 0.8). With the onset of menarche 95.3% (SD 1.7) of adult height were reached; the corresponding remaining height gain was 7.8 cm (SD 2.8). Acne was observed in 81% and striae in 41% of the girls by 18 years.

Adolescent↗
PubMed1987

Short-term testosterone treatment at bone age of 12 to 13 years does not reduce adult height in boys with constitutional delay of growth and adolescence.

Growth data and adult height from 22 untreated patients with constitutional delay of growth and adolescence (group 1) were compared retrospectively with those of 19 patients, who had received long-acting testosterone esters (100 to 250 mg per month, mean total dosage 1029 mg/m2) during 2 months to 3.25 years (mean duration 8.5 months, group 2). Age (group 1 15.4 +/- 1.2, group 2 16.2 +/- 1.4 years), bone age (group 1 12.6 +/- 1.3, group 2 13.1 +/- 1.2 years) at first examination (group 1) or start of treatment (group 2), and adult height (172.8 +/- 7.5 cm group 1, 176.8 +/- 8.0 cm group 2) were not significantly different. In group 2, there was no negative correlation between the total testosterone dose and adult height, and the latter corresponded to predicted height in the same way as in the untreated patients. It is concluded that short-term treatment with long-acting testosterone esters (100 to 250 mg per month during 6 months, starting at a bone age of about 12.5 years), which has positive psychosocial effects, does not have negative somatic effects and does not reduce adult height in these patients.

Adolescent↗
PubMed1986

Estrogen-induced weight gain cannot be predicted in individuals.

The effect of high estrogen doses on weight was studied in 36 adolescent girls with familial tall stature treated to reduce adult height. Mean weight gain during the first year was 9.0 +/- 3.6 kg. Thereafter, there was no or minimal gain on continued treatment. The largest weight velocity occurred during the first 6 months. Within that period, it was most marked during the first 5 weeks, probably due to early water retention. The gain (total, in different groups of patients and in treatment periods of different duration) did not correlate with height and weight before treatment expressed in absolute values or standard deviation scores. It is concluded that the weight gain induced by long-term estrogen treatment cannot be predicted quantitatively before treatment in individuals, and that heavy or fat girls do not necessarily gain more weight than light and lean girls.

Adolescent↗
PubMed1986

Neopterin in AIDs, other immunodeficiencies, and bacterial and viral infections.

An increase in total urinary neopterin was observed in 12 of 13 patients with acquired immunodeficiency syndrome (AIDS), seven of 13 patients with lymphadenopathy, one of six healthy homosexual males, seven of ten adult patients with staphylococcal pneumonia, 11 of 12 children with viral infections, four of seven children with bacterial infections, and 12 of 13 children with various immune defects. Extremely high values of total urinary neopterin and monapterin were observed in severely ill patients with AIDS and those with familial hemophagocytic lymphohistiocytosis. Neopterin excretion was normal in two AIDS patients with Kaposi's sarcoma, but without opportunistic infections at that time. On reexamination of one of these patients later on, elevated neopterin values were noted. Parallel increases in neopterin and monapterin were found, whereas biopterin was usually normal. The increase in total neopterin was mainly due to 7,8-dihydroneopterin and was accompanied by an increase in 3'-hydroxysepiapterin. Increased neopterin in urine is assumed to reflect the increase in GTP pool and GTP cyclohydrolase I activity as observed in stimulated monocytes. Thus, neopterin, as a measure of the activation of the nonspecific cellular immune system, may be used diagnostically to detect allograft rejection after transplantations and to follow-up HTLV-III positive patients.

Acquired Immunodeficiency Syndrome↗
PubMed1986

Compensatory maturational deceleration of growth or "catch-down growth" in patients with congenital adrenal hyperplasia after delayed initiation of therapy.

The growth pattern is reported of 16 patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency in whom therapy was started after the age of 3 years. Treatment was initiated at a mean chronological age (CA) of 4.7 years (range 3.0-7.2) and at a mean bone age (BA) of 10.4 years (range 10.2-13.2). It consisted of hydrocortisone (mean dosage 26 mg/m2) or prednisone (8.7 mg/m2) in all, and of fluorohydrocortisone (0.05-0.1 mg daily) in five patients. At the last examination the mean duration of therapy was 5.2 years, the mean CA 10.0 years, and the mean BA 12.6 years. In 13 of the 16 patients a "catch-down growth" pattern was observed, which was characterised by a decrease in height (expressed as SDS) for CA, a deceleration of bone maturation and increase of height (SDS) for BA, and an improvement in predicted height (Bayley-Pinneau).

Adolescent↗
PubMed1986

Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one.

We report three unrelated patients with Kenny syndrome. Clinical symptoms included severe dwarfism, with internal cortical thickening and medullary stenosis of the tubular bones, normal bone age, macrocephaly, absent diploic space, delayed closure of the anterior fontanel, and normal intelligence; two of the patients had hyperopia and papillary edema. The patients also had episodic hypocalcemic tetany and low serum levels of magnesium. In two patients the diagnosis of idiopathic hypoparathyroidism was established on the basis of undetectable serum parathyroid hormone (PTH) levels (N- and C-terminal RIAs); one of these had normal urinary cyclic adenosine monophosphate (cAMP) response to exogenous PTH. Circulating calcitonin was undetectable in either patient. In a third patient, who had abnormal body proportions, serum levels of PTH were increased in an RIA detecting predominantly intact PTH (N-RIA) and undetectable in another RIA recognizing carboxy-terminal fragments (C-RIA). Administration of PTH promptly increased urinary cAMP excretion. In this patient, serum levels of calcitonin were increased, whereas values for 25-OHD and 1,25(OH)2D were normal.

Abnormalities, Multiple↗
PubMed1986

Pubertal growth in patients with androgen insensitivity: indirect evidence for the importance of estrogens in pubertal growth of girls.

Spontaneous pubertal growth was studied in eight patients with the syndrome of androgen insensitivity to obtain information on the growth-promoting action of estrogens. In one additional patient (who had a gonadectomy before puberty), the effect of exogenous estrogens was studied. Mean age at peak height velocity (12.7 years) was closer to that in normal girls than to that in normal boys. Mean peak height velocity (7.4 cm/yr) was as in normal girls (7.3 cm/yr), but was lower than in normal boys (9.3 cm/yr). Bone age corresponded better to male standards. Mean adult height (172.3 cm) was lower than in normal men (-0.6 SD), but higher than in normal women (+1.4 SD). In the patient who had a gonadectomy, estrogen replacement caused a higher peak height velocity (12 cm/yr), but lower adult height (160.5 cm) than in the patients with intact gonads who received no treatments. We conclude that in normal girls, the pubertal growth spurt also results from the action of estrogens rather than of adrenal androgens. To ensure normal pubertal growth, physiologic estrogen replacement in hypogonadal females should be started at a bone age of about 11 years, and should not be delayed in the hope of achieving a greater mature height.

Adolescent↗
PubMed1986

[Physiologic, pathologic and manipulated body growth].

On the basis of the Zurich growth studies the following aspects of growth are discussed: Multifactorial dependency. Secular trend in young men still present but no longer in infants. Normal distance and velocity curve. Sex dependency of skeletal maturation, pubertal growth-spurt and adult size, but sex independency of the mid-growth spurt around age 7. Independency of adult size from timing and height of the pubertal growth spurt. Growth standards, perinatal standards for intra- and extra-uterine growth, growth chart for each child. Correlation of present height with future adult height and with mean parental height. Estimation of future adult height and comparison with target height estimated from mid-parent-height. Extreme normal variations of height and velocity, hormonal interventions. Catch-up-growth as compensatory growth acceleration after elimination of the cause of pathological growth retardation, and catch-down-growth as compensatory growth retardation after elimination of the cause of pathological growth acceleration.

Adenoma↗