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Biomedical subjects

M Zachmann

Publications and source records attributed to M Zachmann.

At least 109 records · Page 6Linked to original sources
PubMed1980

Effect of intranasal LHRH therapy on plasma LH, FSH and testosterone, and relation to clinical results in prepubertal boys with cryptorchidism.

Synthetic LHRH (HOE 471) administered intranasally over a period of 4 weeks for treatment of uni- or bilateral cryptorchidism in nineteen otherwise healthy prepubertal boys led to increased basal and peak LH values and to markedly decreased peak FSH values in the i.v. LHRH test. Basal testosterone remained unchanged. Sixteen cryptorchid boys treated with placebo served as a control group. The reduced FSH response to i.v. LHRH could be due to induction of a gonadal feedback mechanism rather than pituitary depletion of FSH, in view of the favourable therapeutic effect and the increased LH secretion seen in some of our patients. Pretreatment LHRH tests were available in twenty successfully and in twenty-eight unsuccessfully treated boys. LH values were similar in both groups, whereas FSH peak values were significantly higher in boys who responded successfully to subsequent therapy. Testicular descent occurred most readily in boys with a large pool of easily releasable FSH and without a significant rise in testosterone (in contrast to HCG treatment). We suggest that FSH induces changes that potentiate the local action of testosterone.

Administration, Intranasal↗
PubMed1980

The incidence of congenital adrenal hyperplasia in Switzerland--a survey of patients born in 1960 to 1974.

The incidence of congenital adrenal hyperplasia (CAH) in Switzerland was calucated for patients born in 1960 to 1974. Information was obtained by means of questionnaires sent to all Pediatric Hospitals and Institutes of Pathology in Switzerland. The number of patients and the incidences of the different enzyme defects were: all cases 110 (1:13785 livebirths), 21-hydroxylase 98 (1:15472), 11 beta-hydroxylase 5 (1:303260), 3 beta-dehydrogenase 3 (1:505433). The incidence of females--which is 1:12098 for all cases and 1:13924 for 21-hydroxylase deficiency--presumably appropximates more exactly the real incidence, because of incomplete diagnosis in the male. Salt loss was observed in two thirds of patients with 21-hydroxylase deficiency. A more reliable estimate of the incidence of CAH could be obtained by neonatal screening programs with measurement of serum-17-hydroxyprogesterone.

3-Hydroxysteroid Dehydrogenases↗
PubMed1979

Low urinary estriol during pregnancy caused by isolated fetal ACTH-deficiency.

In a 34-year-old pregnant woman, serum HPL and urinary HCG were normal, but urinary estriol was repeatedly low. A normal boy was delivered after 38 week gestation. During the neonatal period, he had hypoglycemia, muscular hypotonia and transient hyperbilirubinemia. The ACTH-test was normal, but the THS-response to metyrapone was low. Serum ACTH did not respond to insulin and metyrapone. Growth hormone, TSH and gonadotropin responses to stimuli were normal. Treatment with hydrocortisone resulted in disappearance of the symptoms. It is concluded that fetal ACTH-deficiency is one of the specific endocrine causes of low maternal estriol.

Adrenocorticotropic Hormone↗
PubMed1979

3 beta-hydroxysteroid dehydrogenase deficiency. Follow-up study in a girl with pubertal bone age.

Follow-up data on a girl with 3 beta-hydroxysteroid dehydrogenase deficiency at a pubertal bone age are presented. On examination at age 14.7 years (bone age 12 years), there was no spontaneous breast development. On treatment with hydrocortisone and fludrocortisone, most steroids with the exception of increased 17OH-pregnenolone in plasma and delta 5-pregnenetriol and pregnanetriol in urine, were normal. After 1 week off hydrocortisone, plasma 17OH-pregnenolone, DHA and delta5-androstenediol and urinary delta 5-pregnenetriol and pregnanetriol increased markedly, while plasma 17OH-progesterone increased only slightly. On increased hydrocortisone medication, there was no response of plasma estradiol to HMG. This first observation of a pubertal girl with 3 beta-hydroxysteroid dehydrogenase deficiency indicates that in this patient, the defect persists at a pubertal bone age and that it is not limited to the adrenals, but also affects the ovaries. Girls with this type of defect thus require estrogen replacement at a bone age of about 12 years. The large quantities of pregnanetriol in the urine are not due to an incomplete defect or an additional 21-hydroxylase deficiency, but most likely to the peripheral or hepatic conversion of 17OH-pregnenolone or delta 5-pregnenetriol.

3-Hydroxysteroid Dehydrogenases↗
PubMed1979

Silver-Russell syndrome. Observations in 20 patients.

The growth and development data of 20 patients with the Silver-Russell syndrome (14 boys, 6 girls) were analyzed. Family history, pregnancy and delivery did not reveal any significant anomalies. Birth length was 44.0 +/- 3.0 cm (boys) and 43.8 +/- 2.1 cm (girls), birth weight 2.0 +/- 0.4 kg and 2.05 +/- 0.3 kg, respectively. At the time of diagnosis (mean age 4.1 +/- 2.2 years), height was -4.4, bone age -1.9, weight -3.7, and head circumference -1.5 standard deviations below the normal mean for age. Calculated or reached adult height corresponded to 82--94% of target height. Intelligence was normal in most patients. 8 had asymmetrical extremities, 3 an asymmetrical face. 7 of 14 boys had cryptorchidism (3 uni-, 4 bilateral), 2 incomplete masculinization, and 2 of 6 girls hypertrophy of the clitoris. Development of secondary sex characters was appropriate for bone age with exception of one boy, whose puberty was early. In 3 boys with completed pubertal development, testicular volume was small and gonadotropins (before and after LHRH) high. It is concluded that 1. the growth pattern in Silver-Russell syndrome is quite homogeneous, and rather accurate predictions are possible; 2. Intersexual genitalia do not seem to be related to endocrine factors, and 3. hypergonadotropic hypogonadism appears to be frequent in males.

Abnormalities, Multiple↗
PubMed1979

Posttraumatic anterior pituitary insufficiency in childhood.

5 patients are presented in whom cerebral trauma of varying intensity during childhood was followed by pituitary insufficiency. There was no correlation between the severity of injury and subsequent hormonal defects. Among other anterior pituitary hormone defects, growth retardation secondary to growth hormone deficiency is a predominant feature in the pediatric age group. Only one patient requires treatment of neurohormonal diabetes insipidus. The prevalence of traumatic origin among the hypopituitary dwarfs observed in our departement is 3.7%.

Adolescent↗
PubMed1978

Genetic mapping of the 21-hydroxylase-deficiency gene within the HLA linkage group.

To document further the proposed genetic linkage between congenital adrenal hyperplasia due to 21-hydroxylase deficiency and HLA, 34 unrelated families from New York and Zurich, with a total of 48 patients, 48 siblings and their parents, were studied. All patients were HLA genotypically different from the healthy sibs; when two or more children were affected in the same sibship they were always HLA-B identical. The gene for 21-hydroxylase deficiency was separated by genetic recombination from the HLA-A locus and from the locus for glyoxalase I-polymorphism. No HLA-A, HLA-B or HLA-C antigen was selectively increased among the 34 unrelated patients. Lod-score analysis for HLA-B:21-hydroxylase deficiency gave a peak for theta approximately 0.00 at 5.20 for females and 4.30 for males, giving a total peak lod score of 9.5 at theta approximately 0.00 when male and female lod scores were combined. Close genetic linkage between HLA-B and 21-hydroxylase deficiency was thus established.

Adrenocortical Hyperfunction↗
PubMed1978

Bayley-Pinneau, Roche-Wainer-Thissen, and Tanner height predictions in normal children and in patients with various pathologic conditions.

Bayley-Pinneau, Roche-Wainer-Thissen, and Tanner height predictions at various chronologic ages were compared with final adult height in 56 normal subjects and in 34 patients with abnormal growth pattern (11 with familial tall stature, 7 with idiopathic precicious puberty, 6 with Turner syndrome, and 10 with primordial small stature or Silver-Russell syndrome). The two recent methods (Roche-Wainer-Thissen and Tanner) gave very accurate results and were superior to the Bayley-Pinneau method in normal subjects and in patients with familial tall stature. However, they overestimated adult height grossly in precocious puberty and moderately in Turner syndrome and in primordial small stature. It is concluded that calculations based on coefficients and regression equations obtained from normal children (as in the Roche-Wainer-Thissen and Tanner methods) can only be used in normal children or in patients with normal growth potential under adequate treatment. Calculations based on percentages of adult height (as in the Bayley-Pinneau method) are preferable in conditions in which the growth potential in relation to bone maturation is inherently reduced and cannot be corrected by treatment.

Adolescent↗
PubMed1978

Endocrine studies in Fanconi's anaemia. Report of 4 cases.

Four boys with Fanconi's anaemia and growth hormone (GH) deficiency are reported. Case 1 had isolated GH deficiency and responded to HGH and to oxandrolone treatment. Case 2, his brother, had milder haematological and dysmorphic manifestations and maintained a low-normal growth rate without treatment in spite of laboratory evidence of GH deficiency. Case 3 had multiple hypothalamopituitary defects, including deficiencies of GH, ACTH, and gonadotrophins. Case 4 had isolated GH deficiency and responded moderately well to HGH treatment. 3 of the 4 patients had bilateral cryptorchidism, 2 with increased plasma gonadotrophins, indicating primary testicular failure. We conclude that GH deficiency, isolated or combined with other hypothalamopituitary defects, and primary testicular failure with cryptorchidism are frequent but not constant features of Fanconi's anaemia.

Anemia, Aplastic↗
PubMed1978

Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Three otherwise healthy relatives of patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency and salt-wasting presented with clinical and/or biochemical findings, which exceeded those usually seen in heterozygotes: Two females (1 mother and 1 prepubertal sister of a patient with CAH) had marked hypertrichosis and hirsutism and excreted pregnanetriolone in their urine. The mother had increased basal plasma 17alpha-OH-progesterone (296 ng/100 ml), which increased to 7170 ng/100 ml after ACTH as in homozygotes of CAH. One adult male (brother of a patient with CAH) was clinically normal, but also excreted pregnanetriolone and had a high plasma 17alpha-OH-progesterone (1905 ng/100 ml), which increased further to 6352 ng/100 ml after ACTH. It is concluded that these subjects represent unusually marked heterozygotes of CAH rather than mild homozygotes. In females, this condition should be included in the differential diagnosis of idiopathic hirsutism, in males, it will pass unnoticed, unless relatives of patients with CAH are systematically tested.

17-Ketosteroids↗
PubMed1978

Diagnosis of treatable types of short and tall stature.

Some of the most important types of small and tall stature which are accessible to treatment are discussed. The causes of small stature are multiple, since any severe chronic illness during childhood may inhibit growth and the most specifically treatable disorders (e.g. hypothyroidism and hypopituitarism) are the least frequent ones. In tall stature, the causes are less varied and genetically determined, familial tall stature is predominant. The point is stressed that the basis of an accurate diagnosis in these conditions is (1) a thorough understanding of the dynamics and variations of normal growth and (2) knowledge of methods concerning growth analysis, evaluation of bone maturation and prediction of adult height. Sophisticated laboratory procedures, such as determinations of growth hormone, are necessary in only a few selected cases.

Child↗
PubMed1978

[Diabetes insipidus, diabetes mellitus, optic nerve atrophy, and deafness--an autosomal recessive syndrome (didmoad-syndrome) (author's transl)].

By reporting a further case attention is drawn to the autosomal recessive inherited DIDMOAD-syndrome. While diabetes mellitus and optic atrophy are easy to recognize, one often has specifically to look for deafness, diabetes insipidus and the frequently associated dilatation of the urinary tract. Awareness of this condition is important for genetic counselling and vocational guidance, and allows to avoid invasive neuroradiological investigations.

Child↗