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Biomedical subjects

M Zachmann

Publications and source records attributed to M Zachmann.

At least 73 records · Page 4Linked to original sources
PubMed1988

Short stature: a common feature in Duchenne muscular dystrophy.

In a retrospective growth evaluation, which included parental height, birth length and a longitudinal analysis of growth and bone maturation, it has been shown that short stature is a common finding in Duchenne muscular dystrophy already in an early or even preclinical stage. Normal length and weight at birth, slow subsequent growth with a curve crossing the centiles in the 1st years of life, and normal bone maturation are characteristic of this type of short stature.

Body Height↗
PubMed1988

Effect of a recombinant human growth hormone preparation on the urinary 15nitrogen balance in growth-hormone-deficient children.

In 10 patients with idiopathic growth hormone (GH) deficiency (9 boys and 1 girl, aged 7.5-14.5 years, mean 12.1 +/- 2.2 years), urinary 15N-balance studies were performed before and on recombinant hGH (2 x 3 IU/m2 of body surface area subcutaneously on consecutive days). Before and on the 2nd day of recombinant hGH, 99% 15N-labeled ammonium chloride (0.05 g/kg, divided in 3 doses per day, corresponding to 389 +/- 30 mg/m2 of 15N) was administered and 24 h urine was collected. In urine, total nitrogen and the percentage of 15N were measured. From the ingested and excreted quantity, a urinary 15N balance was calculated. Mean 15N percentage from total N was 3.3 +/- 0.5. In 9 patients, basal 15N balance was +79 +/- 15 mg/m2 or +2.9 +/- 0.4 mg/kg. On recombinant hGH, it was +166 +/- 16 mg/m2 or +6.1 +/- 0.6 mg/kg (p less than 0.001). The recombinant hGH-induced positive 15N balance change was +87 +/- 17 mg/m2 or +3.2 +/- 0.6 mg/kg. 1 patient with a higher basal 15N balance (+196 mg/m2, +7.1 mg/kg) had no positive 15N balance change due to latent hypothalamic hypothyroidism. In previous similar studies with pituitary hGH the change of 15N balance was +80 +/- 27 mg/m2 or +2.8 +/- 1.1 mg/kg. It is concluded that the acute nitrogen-retaining effect of recombinant hGH is at least equal to that of pituitary hGH.

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

Identification of new steroids in patients with 17 alpha-hydroxylase deficiency by capillary gas chromatography/mass spectrometry.

Urines of two children with 17 alpha-hydroxylase deficiency contained a number of 5-pregnane- and pregnenediols, -triols and -tetrols with a hydroxy or oxo group in position 11 of the steroid ring. They are formed mainly from progesterone via 11-hydroxyprogesterone, pregnanolone and corticosterone, respectively, or from pregnenolone. Three metabolites not previously described, 16-hydroxypregnenolone, 6,21-dihydroxypregnanediol and 6-hydroxytetrahydrocorticosterone, were identified.

Adrenal Hyperplasia, Congenital↗
PubMed1987

Dexamethasone therapy and cortisol excretion in severe pediatric head injury.

Glucocorticoids are used in an attempt to reduce brain edema secondary to head injury. Nevertheless, their usefulness remains uncertain and contradictory. In a randomized study of 24 children with severe head injury, urinary free cortisol was measured by radioimmunoassay. Twelve patients (group 1) received dexamethasone and 12 (group 2) did not. All patients were treated with a standardized regimen. In group 1 there was complete suppression of endogenous cortisol production. In group 2 free cortisol was up to 20-fold higher than under basal conditions and reached maximum values on days 1-3. Since the excretion of cortisol in urine reflects the production rate closely and is not influenced by liver function and barbiturates, the results in group 2 show that the endogenous production of steroids is an adequate reaction to severe head injury. Exogenous glucocorticoids are thus unlikely to have any more beneficial effects than endogenous cortisol.

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

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

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

[Hirsutism and light forms of congenital adrenogenital syndrome with 21- and 11-beta hydroxylase defect].

Mild clinical signs of increased androgen production in children and adolescents (premature pubarche, advanced bone maturation, tall stature) and in women (hirsutism, primary or secondary amenorrhea, or oligomenorrhea) have proven in the last few years to be attributable to mild types of congenital adrenal hyperplasia due to 21- or 11 beta-hydroxylase deficiency in quite a large proportion of patients. While HLA tissue typing makes it possible under certain circumstances (classic affected case in the family) to differentiate between heterozygotes with symptoms and mildly affected homozygotes (close genetic linkage of the loci on chromosome 6), this differentiation is not possible in 11 beta-hydroxylase deficiency. Accurate diagnosis of these mild types is important, since simple cortisol treatment can improve the clinical condition considerably.

Adolescent↗
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

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

Treatment of pubertal gynaecomastia with testolactone.

22 Boys with pubertal gynaecomastia (age 15.9 +/- 1.9 years) were treated with testolactone (450 mg daily by mouth) for 2 to 6 months without side-effects. The mean breast gland diameter regressed from 4.4 to 3.3, 3.2 cm, and 1.7 cm at 2, 4, and 6 months, while pubic hair and testicular volume progressed normally. Plasma androstenedione increased from 5.4 to 73.1 nmol/l. Testosterone, DHEA, and oestrone increased less, and oestradiol remained unchanged. Androgen/oestrogen ratios increased (most marked change: androstenedione/oestrone from 15 to 140). LH (basal and maximum after LHRH) did not change, but FSH increased somewhat (basal 133 to 173, maximum 225 to 269 micrograms/l). Prolactin remained unchanged. It is concluded that testolactone, an inhibitor of steroid aromatization, is an effective and safe medical treatment for pubertal gynaecomastia.

Adolescent↗
PubMed1985

Growth and sexual development in children with meningomyelocele.

Forty-five children (25 girls; 20 boys) with meningomyelocele (MMC) were assessed for growth, skeletal maturation and pubertal development. The spinal defects were operated on shortly after birth and all children required cerebral drainage for hydrocephalus. Standard deviation scores for height, sitting height, sub-ischiac leg length, head circumference, weight and bone age were compared with aged-matched data from a normal Swiss population. The children with MMC were shorter (height SDS boys -2.34 +/- 1.57; girls -2.01 +/- 1.57, mean +/- SD, P less than 0.0005), secondary to a decrease in trunk and lower limb length: Arm length was normal. The head circumference was increased, significantly in the girls (SDS + 1.49 +/- 1.21, P less than 0.005). Weight was decreased in both sexes, this being significant in the boys (SDS -1.11 +/- 1.23, P less than 0.005); however, comparison of weight with height suggested that children with MMC were relatively obese. Bone age was significantly advanced in both boys (SDS + 1.07 +/- 2.13, P less than 0.025) and girls (SDS + 1.36 +/- 1.77, P less than 0.0001). Secondary sex characteristics appeared early in both boys and girls and one girl and one boy presented with puberty advanced by several years. Cryptorchidism occurred in 25% of boys with MMC.

Adolescent↗
PubMed1984

Ovarian steroidogenesis in an adrenalectomized girl with 21-hydroxylase deficiency.

A girl with congenital adrenal hyperplasia due to 21-hydroxylase deficiency could not be controlled by conventional treatment, and was adrenalectomized at age 8.5 years (bone age 13.5 years). After surgery, puberty and menarche occurred. On replacement therapy, her progress was uneventful up to the age of 16 years, when menstruations ceased and signs of virilization reappeared. Testosterone, androstenedione, and 17-hydroxyprogesterone in plasma, and pregnanetriol in urine were high, but DHEA in plasma, and pregnenetriol and pregnanetriolone in urine were low. Oestrogens in plasma were normal. There was no steroid response to ACTH, and marked, but somewhat slow suppression by dexamethasone. HMG induced a strong rise in oestrone and oestradiol. Ethinyloestradiol reduced not only oestradiol in plasma, but also testosterone, androstenedione, and 17-hydroxyprogesterone. With subsequent dexamethasone treatment, menstruation restarted, and the values returned to normal. It is concluded that virilization may reoccur in patients with 21-hydroxylase deficiency even after adrenalectomy, and that the ovaries in this patient contain some tissue, which has properties of adrenal (suppressibility by dexamethasone) and ovarian tissue (suppressibility by ethinyl oestradiol, preference for delta 4-pathway, low steroid 11-oxygenation) at the same time.

17-alpha-Hydroxyprogesterone↗