PubMed Health⌕ Search

Biomedical subjects

M Zachmann

Publications and source records attributed to M Zachmann.

At least 127 records · Page 7Linked to original sources
PubMed1978

Congenital pseudohypoaldosteronism: case report and review. Effect of indomethacin during sodium chloride depletion.

A newborn boy (birth weight 2550 g) presented from the first days of life with poor drinking, moderate vomiting and persistent weight loss. On hospital admission at age 4 weeks, there were severe dehydration, dystrophy and electrolyte disturbances (Na 107, Cl 80, K 5,4 mval/l). The usual causes of salt wasting were excluded, but plasma renin activity, plasma aldosterone and urinary aldosterone-18-glucuronide were markedly increased. DOCA had no salt-retaining effect, but a sodium chloride supplement of 3 g per day improved the clinical condition dramatically and normalized the electrolyte values. With this treatment, plasma renin activity and aldosterone were normal or almost normal beyond the age of 6.5 months, but urinary aldosterone-18-glucuronide remained slightly increased. Considerable augmentation of the plasma renin activity and of urinary aldosterone-18-glucuronide, but no clear salt loss were induced by spironolactone. With salt restriction, there was evidence for marked salt loss. Its progress could be inhibited by administration of indomethacin. Since indomethacin inhibits the synthesis of prostaglandins with saluretic activity, it is probable that the prostaglandins participate in the pathogenesis of the salt wasting in pseudohypoaldosteronism.

Adrenal Insufficiency↗
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for the increased IQ in congenital adrenal hyperplasia, but that more likely methodological factors (such as outdated standards) account for the higher values in patients and siblings.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↗
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

[Ambulatory diagnostic methods in disorders of sex maturation].

The most important investigative methods for study of disorders of pubertal development are simple. However, they require a detailed knowledge of the normal course of puberty. In most cases the family history (height of the parents, course of puberty in the father, age at menarche of the mother), personal history (growth curve, height velocity) and physical examination (height measurement, evaluation of stage of pubertal development, bone age) make it possible to decied whether there is benign delayed growth and development (a variation of normal) or whether the patient is suffering from one of the rare types of true hypogonadism (hormonal disorder or types of true hypogonadism (hormonal disorder or chromosomal anomaly). Only when there is strong suspicion of hypogonadism should the expensive and complicated laboratory and chromosome studies be carried out. They serve to detect a disorder of the end organ or of the hypothalamus-pituitary system (determination of testosterone or estradiol, determination of LH and FSH before and after stimulation with the releasing hormone LHRH, determination of growth hormone before and after insulin and arginine, determination of TSH before and after TRH). Although endocrine disorders are rarely the cause of delayed puberty, their diagnosis is important with a view to causal treatment.

Adolescent↗
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

Male pseudohermaphroditism consistent with 17,20-desmolase deficiency.

A 16-year-old phenotypic female with XY genotype presented an unusual form of nonfamilial male pseudohermaphroditism. Seemingly a normal girl during childhood, the patient failed to undergo pubertal changes presenting with scant pubic hair, absent axillary hair, lack of breast development, retarded bone age and primary amenorrhea. Neither uterus nor adnexa were palpable above the blind-ending vagina. Serum testosterone and estradiol were barely detectable by radioimmunoassay, while LH and FSH reached castrate levels. Two small testes were removed from the pelvic sidewalls which, on biopsy, showed atrophy and hyalinization of seminiferous tubules, but clusters of Leydig cells without signs of hypertrophy or hyperplasia. Administration of testosterone resulted in urinary nitrogen retention and a decrease in serum LH and FSH. Radioimmunoassay of various serum or plasma steroids and gas chromatographic determination of urinary steroids prior to and following ACTH stimulation yielded results which permitted to rule out 20,22-desmolase, 3beta-hydroxysteroid dehydrogenase, 17-hydroxylase and 17beta-hydroxysteroid dehydrogenase deficiency. Low plasma dehydroepiandrosterone sulfate (DHEA-S) and androstenedione (delta4 A) concentrations, low urinary 17-ketosteroid and particularly low dehydroepiandrosterone (DHEA) excretion and the minimal rise of plasma DHEA-S and delta4 A and of urinary DHEA in response to ACTH in conjunction with a normal response of other serum and urinary C-21 steroids are consistent with 17,20-desmolase deficiency. Direct confirmation of this defect, however, seems impossible in the absence of in vitro studies of testicular steroidogenesis.

17-Ketosteroids↗
PubMed1976

Unusual low plasma renin hypertension in a child.

A four-year-old girl with hypertension (140/60) and chronic hypokalemic alkalosis was studied to determine the origin of this clinical feature. High exchangeable sodium (56.7 meq/kg vs. 45-55 meq/kg in controls) was associated with a low plasma renin activity (6 ng/1/min vs. 26 +/- 3.1 in controls) and reduced aldosterone secretion rate (5.56 mug/day; normal: 50-150 mug per day)). A low corticosterone secretion rate (0.228 mg/day vs. 0.50-0.65 in controls) and urinary tetrahydrodeoxycorticosterone (0.007 mg/day vs. 0.03-0.09 mg/day in controls) were found. The basal secretion rate of cortisol was also low (1.80 mg/m2/day vs. 5.4-16.7 mg/m2/day in controls) in spite of normal plasma ACTH: 78 pg/ml. The normal increase of the cortisol secretion rate (from 1.80 to 65 mg/m2/day) after synthetic ACTH stimulation ruled out a 17 alpha hydroxylase deficiency. The low sweat Na/K ratio (0.25) and the good suppressing efficacy of dexamethasone and of the spironolactones on hypertension and on the hypokalemic alkalosis agreed with the hypersecretion of a mineralocorticoid. The secretion rate of 18 hydroxydeoxycorticosterone was high (91 mug/day/1.73 m2 vs. 40-80 mug per day and per 1.73 m2). As the mineralocorticoid potency of this steroid is weak, we speculate that it might be the precursor of a more potent but unknown mineralocorticoid which could influence the ACTH secretion.

18-Hydroxydesoxycorticosterone↗
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↗