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Biomedical subjects

A Prader

Publications and source records attributed to A Prader.

At least 109 records · Page 6Linked to original sources
PubMed1978

Intelligence of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, their parents and unaffected siblings.

IQ measurements were performed in 33 patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (110.6 +/- 13.9), in 29 unaffected siblings (113.8 +/- 11.3) and in 48 parents (104.4 +/- 9.4). The results were significantly higher than normal in the patients and siblings, but not in the parents. They were also significantly higher in the patients and siblings as compared to the parents. It is concluded that neither pre- or postnatal androgen exposure nor a genetic linkage can be made responsible for the increased IQ in congenital adrenal hyperplasia, but that more likely methodological factors (such as outdated standards) account for the higher values in patients and siblings.

Adolescent↗
PubMed1978

Catch-up growth.

Catch-up growth is a regular phenomenon seen in young children after a period of growth retardation when the cause of the growth deficit is removed. It consists of an immediate growth acceleration with an abnormally high velocity, followed by a progressive deceleration till the original or normal growth channel is reached. Examples of individual patients and groups of patients with endocrine disorders, metabolic disorders, malnutrition and prenatal growth retardation have been given. Clinical experience shows that complete or near complete catch-up growth is possible in infants and young children, but not in children near or in puberty. The factors responsible for catch-up growth and the regulating mechanisms are unknown. Serum growth factors, receptor changes or genetically programmed cells are more likely to be involved than the classical growth promoting hormones. Superficially catch-up growth is a growth spurt similar to the pubertal growth spurt. However, the shape of the velocity curve, the maturity stage at which it occurs and the mechanisms involved are entirely different. The opposite of catch-up growth which compensates for a previous growth deficiency is the lagging-down growth which compensates for a previous growth excess. Both forms of growth compensation are examples of the general biological phenomenon of canalization of growth and maturity.

Age Factors↗
PubMed1977

Treatment of cryptorchidism by intranasal synthetic luteinising-hormone releasing hormone. Results of a collaborative double-blind study.

The effect of intranasal luteinising-hormone releasing hormone (L.H.R.H.) in 84 boys with unilateral or bilateral cryptorchidism was evaluated in a double-blind controlled trial. Boys with retractile testes were not studied. L.H.R.H. caused no side-effects; plasma antibodies to L.H.R.H. were never demonstrated. Four weeks' therapy with intranasal L.H.R.H. administered in six doses daily (1.2 mg/day) led to complete descent in 38% of a total of 61 testes, an improved position in 28%, and no response in 19%; 15% of testes were never palpated. After placebo the position of 25% of testes was improved; there was no response in 75% of a total of 51 testes. The success-rate seemed to be independent of age, but was related to the initial testicular position, with complete descent in only 11% of testes not previously palpated compared with 48% of testes found in the inguinal region.

Administration, Intranasal↗
PubMed1977

Height correlations between parents and mature offspring in normal subjects and in subjects with Turner's and Klinefelter's and other syndromes.

The correlations for stature between parents and grown-up offspring in 90 normal males and 116 normal females have been compared with similar correlations obtained in 27 adult males with Klinefelter's syndrome, 33 adult females with Turner's syndrome and in 75 adult patients with Down's syndrome. There was close similarity between the findings in the patients with sex chromosomal disorders and in normal subjects, a roughly constant amount of height being gained or lost through the chromosomal abnormalities. However the genetic pattern was lost in patients with Down's syndrome. In males with idiopathic precocious puberty and in untreated females with congenital adrenal hyperplasia, the parent-offspring correlations were not normal. In females with idiopathic precocious puberty they approximated normal values. The first two are pathological conditions of varying severity, whilst the majority of girls diagnosed as suffering from precocious puberty represent the extreme variant of normal.

Adrenocortical Hyperfunction↗
PubMed1977

Effect of aminoglutethimide on urinary cortisol and cortisol metabolites in adolescents with Cushing's syndrome.

The effect of aminoglutethimide (AG) 4 X 250 mg (670 mg/m2 daily by mouth) on the excretion of the free cortisol (radio-immunoassay) and of its metabolites THE, THF-allo THF, cortolone and beta-cortolone (gas chromatography on capillary column) was studied monthly during 3-5 months in four adolescents (one girl, three boys) aged 15.9-18 years with Cushing's syndrome due to bilateral adrenal hyperplasia, but without evidence of a pituitary tumour. Under AG, all compounds decreased to a minimum after 1-2 months. The decrease of THE- THF-allo THF was most marked, followed by cortolone-beta-cortolone and free cortisol. The sum of the conjugated metabolites was normalized, but free cortisol remained high. A rebound was noted after 3-5 months of continued treatment. This was associated with clinical relapse (weight gain, increasing blood pressure). With AG, a non-steroidal peak appeared on the chromatograms. It is concluded that: (1) AG is only temporarily effective in diminishing the excretion of cortisol and its metabolites; (2) paradoxical increments of 17-ketosteroids as reported from colorimetric analysis are non-specific and are probably due to the non-steroidal peak; and (3) AG appears to modify steroid catabolizing liver enzymes (inhibition of 5beta-reductase and/or 3alpha-dehydrogenase, possibly stimulation of 20alpha- and 20beta-dehydrogenases). This could increase the biological half-life of cortisol and contribute to the clinical rebound, which is due to increased ACTH-secretion. Because of its excellent short-term effects, AG appears to be useful to prepare patients for bilateral adrenalectomy.

Adolescent↗
PubMed1977

Simultaneous occurrence of hypopituitarism and adrenal medullary insufficiency in a boy with hypoglycemia.

The case of a 6-year-old mentally retarded boy is described, who was delivered by breech presentation and who was later found to have adrenal calcifications. He presented with severe hypoglycemia during infancy and early childhood. Subsequent examinations revealed the coexistence of pituitary growth hormone and ACTH-deficiency and of adrenal medullary insufficiency. The hypothalamus-pituitary-thyroid and -gonadal axes were apparently normal. It is concluded that both, the pituitary and adrenal medullary insufficiency are probably due to the same complications at birth (hypothalamic or pituitary asphyxia and adrenal hemorrhage) and that both conditions contributed to the development of hypoglycemia.

Adrenal Gland Diseases↗
PubMed1976

Gonadal function in young adults after surgical treatment of cryptorchidism.

In a follow-up study of 48 young men who had been surgically treated for cryptorchidism before puberty testicular function was assessed by examining the genitalia, testicular volume, secondary sex characteristics, semen, plasma luteinising hormone (LH) and follicle-stimulating hormone (FSH) concentrations after luteinising hormone-releasing hormone stimulation, and plasma testosterone concentrations. Clinical androgen effects were normal. The mean testicular volume of both testes was in the low normal range in those who had had unilateral cryptorchidism and below normal in those who had had bilateral cryptorchidism. Of 37 patients whose sperm counts were recorded (14 bilateral) six showed azoospermia (all bilateral), five had severe oligospermia (four bilateral), and 10 had moderate oligospermia (one bilateral). In nearly all those who had had bilateral cryptorchidism and most of those who had had unilateral cryptorchidism plasma gonadotrophin levels were increased. Four cases of possible partial LH deficiency were identified. Plasma testosterone concentrations were normal in all except two patients.

Adolescent↗
PubMed1976

Hand-foot-uterus-(HFU) syndrome with hypospadias: the hand-foot-genital- (HFG) syndrome.

Three brothers with the typical findings of the HFU-syndrome, but in addition with various degrees of hypospadias are reported. The family history otherwise was negative. The similarity of the "pattern-profile" of these cases with the mean pattern of the 11 previously reported ones is striking, as expressed by a product moment correlation of 0.83, 0.8 and 0.78 respectively. The widening of the concept of the HFU to that of a HFG-syndrome, as suggested by Poznanski et al, in 1974, is discussed.

Child↗
PubMed1976

Interrelation of the therapeutic effects of growth hormone and testosterone on growth in hypopituitarism.

The present study evaluates the modifying effect of growth hormone on the growth-promoting action of testosterone in boys at pubertal bone age. Growth and bone maturation were analyzed in 42 boys with primary or secondary Leydig cell insufficiency who had been treated with testosterone in an attempt to induce puberty and the accompanying growth spurt. The dosage given was considered normal or high for physiologic replacement therapy at puberty. Sixteen boys had normal GH secretion (seven had isolated gonadotropin deficiency, nine had congenital anorchia); 26 were GH and Gn deficient (20 idiopathic, six craniopharyngiomas). Of the GH-deficient patients, 12 received hGH simultaneously, while 14 received only testosterone. Results from each group were compared with the normal pubertal growth spurt in 15 untreated healthy boys. In isolated Gn deficiency and in congenital anorchia, the growth rates increased to above normal during the first six months of treatment, indicating that the testosterone dosage was probably too high for the beginning of puberty. During two subsequent six-month treatment periods, the rates leveled off close to normal. The same was true in the GH- and Gn-deficient patients on adequate hGH replacement. For contrast, there was minimal or no stimulation of growth when an even higher testosterone dose was given to GH- and Gn-deficient boys without hGH therapy. Bone maturation was normal in the boys with normal GH secretion or with hGH replacement, but was subnormal in the GH-deficient boys not treated with hGH. We conclude that testosterone exerts its full growth-promoting action only in the presence of normal endogenous GH secretion or with sufficient hGH replacement and that both hormones should be continued simultaneously until final adult height is achieved.

Adolescent↗
PubMed1976

Testosterone treatment of excessively tall boys.

Twenty-nine tall boys with a mean height prediction of 198 cm were treated for serious psychosocial reasons with high doses of a long-acting testosterone preparation (500 mg/m2/month). Their ages at the start of treatment ranged from 9.8 to 16.9 years, and the mean duration of treatment was 1.2 years. Bone age was assessed according to the Tanner-Whitehouse II (RUS) method, and height predictions were calculated using the age-specific regression equations of Tanner and colleagues. On the basis of bone age at the start of treatment, three groups were formed (bone age 12.1 to 14, 14.1 to 15, and greater than 15 years), and the results were assessed separately. In the whole series, adult height was reduced by 5.4 cm; the best results (8cm) were achieved in the youngest bone age group. Under treatment, bone maturation was accelerated (1.8 years per year) and growth velocity increased (youngest bone age group) or was normal (older bone age groups). Testicular volume remained prepubertal in young patients and decreased in older ones. After discontinuation of treatment, testicular volume and sperm count became normal again after a mean period of 1.5 years, but in a few cases recovery was slower. It is concluded that adult height in tall boys may be effectively reduced by testosterone, that the results are best if treatment is started in early puberty, and that the suppressing effects on pituitary and testicular function are fully reversible. Since the indication for treatment is a psychosocial one, the patients should be carefully selected, taking into account not only growth but also psychological and familial factors.

Adolescent↗
PubMed1976

Congenital bilateral anorchia in childhood: a clinical, endocrine and therapeutic evaluation of twenty-one cases.

An evaluation of twenty-one boys, including a discordant pair of identical twins, is presented in whom bilateral anorchia was found with a negative family history and without history of breech presentation or of postnatal testicular trauma, torsion or orchitis. The most likely cause is prenatal testicular torsion. The incidence of the condition in our hospital is 1 in 177 cases of cryptorchidism. Prepubertal growth was normal before treatment, and testosterone replacement therapy allowed a normal pubertal growth spurt and skeletal maturation. Although demonstrable basal urinary testosterone was found in the subjects with a postpubertal bone age, most patients tested showed no increase after stimulation with human chorionic gonadotrophin. In the presence of a normal penis and scotum, such findings, together with a high basal FSH and an increased response of plasma LH to LHRH, make surgical exploration unnecessary. In the rare patient who shows a positive but subnormal response of testosterone to HCG, Leydig cells are presumed to be present either ectopically or in rudimentary testes, and further surgical exploration is indicated.

Adolescent↗
PubMed1976

Quantification of bone mineralization using computed tomography.

Computed tomography was used to find a sensitive parameter for bone mineralization. A precision scanning instrument was constructed for determination of the mineral distribution in sections of the forearm. The quality of the reconstructed images allows separate quantification of compact and spongy bone even when gamma rays are used. Computer simulation and measured of models and macerated human bones showed that under clinical conditions it is possible to quantify spongy bone density within an accuracy of +/-2%.

Adolescent↗
PubMed1976

Urinary testosterone glucuronide and sulphate in newborns and young infants.

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 mug/24 h) than girls (1.1 and 0.7 mug/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.

Age Factors↗