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Biomedical subjects

M Zachmann

Publications and source records attributed to M Zachmann.

At least 91 records · Page 5Linked to original sources
PubMed1984

Theoretical growth evaluation (TGE). A computerized screening system for growth disorders.

A computerized screening system for growth disorders is presented. Its aim is to save time and to facilitate the decision of whether a patient with a suspected growth problem should be referred for specialized evaluation. It uses accepted methods and common sense, and has been shown to be effective. A radiography of the hand and wrist, and a completed data sheet (birth date, date of x-ray, height and weight, parental height, and in girls, whether menarche has occurred) are mailed for analysis. Bone age is rated according to Greulich and Pyle, and Tanner et al. by trained technicians, and the results are supervised by a consultant pediatric endocrinologist. The supplied data and bone age values are then processed by a computer, which compares them with normal values, calculates three different height predictions (Bayley and Pinneau, Roche et al., Tanner et al.), as well as "target height" (estimation of genetic potential), and prints an easy-to-read growth curve. Depending on the constellations of height (normal, below 3rd, above 97th percentile), bone age (normal, retarded, advanced in comparison with chronologic age), and height predictions vs. target height (predictions within, below, above target height range), different messages suggesting the most likely diagnostic possibilities are listed on a computer printout.

Adolescent↗
PubMed1984

Influence of oestrogen in high and low doses on plasma steroid concentrations in girls with tall stature and Turner syndrome.

Plasma DHA, 17-OH-progesterone, androstenedione, testosterone, cortisol, oestrone and oestradiol were determined before and on high dose oestrogen treatment (1, 3, 6 and 16 months) given to excessively tall girls to reduce future adult height. Basal values were normal: DHA 16.4 +/- 0.8 nmol/l (n = 90), 17-OH-progesterone 4.9 +/- 0.3 (n = 20), androstenedione 5.6 +/- 0.3 (n = 25), testosterone 2.6 +/- 0.3 (n = 24) and cortisol 395 +/- 20 (n = 90). On treatment, DHA, 17-OH-progesterone and androstenedione decreased to a minimum of 9.3 +/- 1.0 nmol/l (3 months, n = 13), 2.4 +/- 0.3 (6 months, n = 7) and 2.6 +/- 0.2 (6 months, n = 9), respectively, while testosterone remained unchanged, and cortisol increased to a maximum of 825 +/- 99 nmol/l (16 months, n = 23). In 15 girls with XO gonadal dysgenesis, basal DHA was low (11.8 +/- 1.0 nmol/l), and did not significantly change on low dose oestrogen replacement (13.3 +/- 1.4). The cause of the fall in plasma concentrations of androstenedione, DHA and 17-OH-progesterone in treated tall girls is unknown, but it is speculated that it might be related to peripheral conversion in the augmented adipose tissue mass. The rise in plasma cortisol, on the other hand, is probably due to increased transcortin.

Adolescent↗
PubMed1983

Radioimmunoassay of progesterone in saliva.

A rapid specific radioimmunoassay for progesterone in mixed, unstimulated saliva is described. Column chromatography is not necessary. One single extraction with petroleum ether provides a fractional recovery of 75-95%. The assay sensitivity is 9 pg progesterone/tube. The intra- and interassay variation for low, medium, and highly concentrated progesterone pools is 13.1-9.5 and 17.4-13.9%, respectively. Analytical recovery documents excellent correlation between expected and detected progesterone concentrations (r = 0.994). Data from salivary progesterone of a regularly menstruating girl and of a patient with XO Turner's syndrome are provided.

Adolescent↗
PubMed1983

Importance and accuracy of bone age ratings in a computerized growth evaluation system.

Bone age ratings according to Greulich and Pyle and to Tanner and co-workers (RUS) of 88 children from two pediatric endocrine centers were compared with ratings from 2 trained technicians and independent ratings from a consulting pediatric endocrinologist. Considering the mean of all ratings as 'true bone age', the mean errors of the individual estimations were small (0.15-0.38 years for the Greulich and Pyle method, 0.12-0.27 years for the method according to Tanner and co-workers). Only in 2 of 338 ratings were differences larger than 1 year observed. In these 2 cases, there was marked dissociation between the maturation of carpal and phalangeal bones. It is concluded that estimations of bone maturation can be carried out reliably by properly trained technicians.

Age Determination by Skeleton↗
PubMed1983

Clinical and biochemical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. A study of 25 patients.

Twenty five patients (10 males and 15 females) aged 0-23 yr with congenital adrenal hyperplasis due to 11 beta-hydroxylase deficiency were studied. They were divided into 13 classic (group A), and 12 mild (group B) patients. The patients of group A were diagnosed at a younger age and had more severe clinical symptoms (ambiguous genitalia in girls, pseudoprecocious puberty in boys). Two had neonatal salt wasting before treatment, and one gynecomastia. Seven had moderate to severe hypertension. Their mean 3 alpha,17,21-trihydroxy-5 beta-pregnan-20-one (THS) and 3 alpha, 21-dihydroxy-5 beta-pregnane-11,20-dione (THDOC) excretion was 14.2 +/- 4.1 and 7.2 +/- 4.2 mg/m2 . day, respectively. The patients of group B had mostly late onset of symptoms (hirsutism, amenorrhea in girls, pseudoprecocious puberty in boys, tall stature, and advanced bone age in both sexes). One boy had bilateral cryptorchidism. Four had moderate hypertension. In seven patients, THS (5.3 +/- 2.3 mg/m2 . day) and THDOC (3.9 +/- 0.5 mg/m2 . day) responded to ACTH. In five, only THS (4.3 +/- 1.1 mg/m2 . day) responded, but THDOC remained undetectable. It is concluded that the clinical and biochemical expression of 11 beta-hydroxylase deficiency is variable, that hypertension in not directly related to deoxycorticosterone, and that, regardless of the intensity of the defect, there are patients in whom the 11 beta-hydroxylation of 17 alpha-hydroxylated steroids only is impaired, and others in whom both the conversion of 17,20-dihydroxy-4-pregnene-3,20-dione and deoxycorticosterone are reduced.

17-Ketosteroids↗
PubMed1983

Male pseudohermaphroditism due to 17,20-desmolase deficiency.

In a 5-yr-old 46,XY male pseudohermaphrodite with microphallus, perineal hypospadias, chordee and cryptorchidism, serum C19 steroid levels were abnormally low in the basal state and after adrenal and testicular stimulation. Serum C21 steroid levels were elevated in the basal state and increased further after adrenal, but not after gonadal, stimulation. Urinary excretion of pregnanetriolone, a metabolite of 17-hydroxypregnenolone and 17-hydroxyprogesterone not normally present in the urine, was increased in the basal and stimulated states. Cortisol production was normal, and all steroid hormone levels were suppressed by dexamethasone. Testicular biopsy was consistent with prepubertal cryptorchid testes. Incubation of testicular tissue with labeled 17-hydroxyprogesterone revealed failure of conversion of precursor to androstenedione and testosterone. A significant increase in phallic length occurred after treatment with exogenous androgen. These findings are consistent with 17,20-desmolase deficiency in both gonads and adrenal glands.

Adolescent↗
PubMed1982

Longitudinal anthropometric measurements in patients with growth hormone deficiency. Effect of human growth hormone treatment.

The effect of human growth hormone (6IU/m2 twice weekly i.m.) on standing, sitting, and subischial leg height, on arm length, head circumference, fronto-occipital and biparietal head diameter, bi-iliac (pelvis) and bihumeral (shoulder) width, body weight, triceps and subscapular skinfold thickness, and upper arm and calf circumferences was studied longitudinally over a period of 2 years in 37 prepubertal growth hormone deficient patients (29 boys, 8 girls). Thirteen of them had isolated growth hormone deficiency, 18 combined defects with other anterior pituitary hormone deficiencies, and 6 had been operated for a craniopharyngioma. The most retarded height and length measurements were influenced most markedly by treatment in the fashion of a characteristic catch-up growth, while head circumference, which was less retarded initially, increased more slowly. With exception of craniopharyngioma patients, who became slightly eunuchoid, both proportions (sitting height versus subischial leg height) were not changed by treatment. The disproportions of shoulder and hip width (relatively wide pelvis, narrow shoulders before treatment) tended to be normalized. The results in patients with operated craniopharyngioma were not as good as in those with idiopathic growth hormone deficiency.

Adolescent↗
PubMed1982

Partial characterization of unusual polar steroids in the urine of a child with low renin hypertension.

Analysis of urinary steroids excreted by a 7-year old girl with low renin hypertension following ACTH treatment revealed several unknown steroids, which have been analysed by gas chromatography-mass spectrometry. It is proposed that these steroids are monohydroxylated derivatives of cortisol, cortisone, either or both tetrahydro and allo-tetrahydrocortisol and either or both tetrahydro and allo-tetrahydro-11-deoxycortisol. Further analysis indicated that there are two likely positions for the additional hydroxyl group, either on the A or B ring.

Adrenocorticotropic Hormone↗
PubMed1982

Two types of male pseudohermaphroditism due to 17, 20-desmolase deficiency.

Three patients with male pseudohermaphroditism due to 17,20-desmolase deficiency were studied at a pubertal age. Patients 1 and 2 (first cousins, raised as males) had inter-sexual external genitalia, some spontaneous male pubertal development, some response of plasma testosterone to hCG, low plasma dehydroepiandrosterone, and pregnanetriolone (3 alpha, 17 alpha, 20 alpha-trihydroxypregnan-11-one) in urine. Patient 3 (unrelated, raised as a female) had female external genitalia, no spontaneous pubertal development, no response of plasma testosterone to hCG, normal plasma dehydroepiandrosterone, and no pregnanetriolone in urine. It is concluded that two types of 17,20-desmolase deficiency exist: one with an incomplete defect in both, the delta 4- and the delta 5-pathway (patients 1 and 2), and one with a complete defect in the delta 4-pathway only (patient 3).

Aldehyde-Lyases↗
PubMed1982

Transient impairment or delay of urinary trihydroxypregnanone (THS) response to metyrapone in boys with delayed adolescence and in patients with isolated growth hormone deficiency.

Twenty three boys with delayed adolescence (age 15.7 +/- 2.0, bone age 12.4 +/- 2.1 years) were studied. Their cortisol response to insulin was normal. After oral metyrapone (500 mg/m2 by mouth) one to three consecutive 12 h urine samples were collected for analysis of THS. Thirty seven tests with 37 first, 21 second, and 11 third samples were carried out. The results could be divided into two main groups: 25 tests (group A) were subnormal in the first sample, 12 of them with a very weak (40 +/- 8 micrograms/m2/12 h) and 13 with an insufficient (191 +/- 16 micrograms/m2/12 h) THS response. Values in the second and third sample were higher, indicating a delayed response. In 12 tests (group B), the results were normal (1016 +/- 143 micrograms/M2/12 h) in the first and lower in the second and third samples. In three patients with repeated tests, there was improvement with increasing bone age. The THS-responses to metyrapone did not correlate with those of growth hormone, gonadotrophins, and TSH to stimuli. It is concluded that the THS-response to a single dose of metyrapone may be temporarily insufficient or delayed in delayed adolescence. We interpret this finding as showing transiently reduced or slow hypothalamic responsiveness.

17-Hydroxycorticosteroids↗
PubMed1982

[Estimation of bone maturation and calculations of prediction of adult height as tools for the evaluation of growth disorders (author's transl)].

The methods of estimation of bone maturation (Greulich & Pyle. Tanner et al.) and the possibilities for the calculation of future adult height (Bayley & Pinneau, Roche et al., Tanner et al.) are briefly described and their advantages and disadvantages in normal children and in children with growth disorders are discussed. In normal children, all methods provide valuable results, but there are small differences of precision depending on whether the pubertal development is early, average, or late. In pathological conditions, however, as e.g. in precocious puberty or in girls with Turner syndrome, the methods of Roche et al. and of Tanner et al. may overestimate adult height considerably, while that Bayley & Pinneau remains reasonably accurate. A computerized system, which facilitates the complicated and time-consuming calculations is briefly presented.

Age Determination by Skeleton↗
PubMed1982

[Virilization caused by methandrostenolone-containing cream in 2 prepubertal girls].

Two prepubertal girls were treated with Dianabol cream by their family physicians during 6 and 8 months because of an anal exzema. In both of them, growth velocity and bone maturation were accelerated, and there was hypertrophy of the clitoris and deepening of the voice. In one girl, all symptoms with the exception of the deep voice had disappeared six years after the discontinuation of treatment. In the other girl, final evaluation is not yet possible. The two observations show that androgens and anabolic steroids may have a marked systemic action if applied percutaneously. Treatment with these compounds is indicated very rarely in children and should be restricted to pediatric endocrinologists.

Body Height↗
PubMed1981

Molecular basis for familial isolated growth hormone deficiency.

Nuclear DNA from four individuals with familial isolated growth hormone (somatotropin) deficiency (IGHD) type A was studied by restriction endonuclease analysis. By using 32P-labeled human growth hormone (hGH) cDNA sequences as a probe, patterns seen after various digestions indicated that these individuals were homozygous for a deletion of at least 7.5 kilobases (kb) of DNA. This deletion includes the gene that encodes the normal growth hormone but does not include the variant growth hormone gene. Restriction patterns of DNAs from all family members agreed with an autosomal recessive mode of inheritance of the deletion that correlates with the clinical phenotype. Furthermore, independent assortment of the two types of hGH genes suggests that these genes are nonallelic. These findings indicate that, in these families, IGHD type A is caused by deletion of the normal hGH genes and that this disorder can occur in the presence of variant hGH genes.

Cloning, Molecular↗
PubMed1980

[Androgen-producing hilus cell tumor (Leydig cell tumor) of the ovary: case contribution to the differential diagnosis of virilization in the adult woman].

Severe hirsutism, deepening of the voice and enlargement of the clitoris developed in the course of two years in a 55-year old hysterectomized woman. Laboratory examinations showed markedly elevated plasma concentrations of testosterone and androstenedione and a moderately increased urinary excretion of 17-ketosteroids. Gaschromatographic analysis of the urinary steroids, revealed that she mainly excreted etiocholanolone, androsterone and pregnanetriol. Plasma androgens and urinary 17-ketosteroids were not suppressed by dexamethasone treatment. During catheterization of the vena cava blood samples were selectively taken from the ovarian veins. Androgen concentrations were the highest in the plasma from the right ovarian vein. However, phlebography as well as adrenal scanning with 131I-adosterol indicated a tumor of the right adrenal gland. During laparoscopy the right ovary was found to be enlarged, and it was subsequently removed. It contained a tumor 2.5 cm in diameter which had the histological features of a hilus cell tumor (Leydig cell adenoma). Two years later, the patient underwent surgery for suspected tumor of the left kidney. A functionless atrophic left kidney was removed. There was a complete thrombosis of the left renal and ovarian veins. Possibly, this severe lesion of the two vessels had been caused by their previous catheterization.

Androgens↗
PubMed1980

Anthropometric measurements in patients with growth hormone deficiency before treatment with human growth hormone.

In 74 children (52 males, 22 females) with growth hormone (GH) deficiency (30 cases with isolated GH-deficiency, two of them familial; 4 familial and one isolated case with tendency for formation of antibodies against hGH; 29 with other pituitary hormone defects; 10 craniopharyngiomas), various anthropometric measurements were analyzed before treatment with hGH. In all groups, standing height, sitting height, and subischial leg height were equally retarded, and bihumeral width was more retarded than biiliac width; the head was relatively large; fat tissue was increased with subscapular skinfolds being greater than triceps skinfolds, indicating relative obestiy of the trunk; muscle and/or bone mass was reduced. In isolated GH-deficiency, head shape was slightly scaphoid; in combined defects, it was round, and in craniopharyngioma cases, it was brachycephalic. It is concluded that antrhopometric measurements may help in differentiating the type of GH-deficiency.

Adolescent↗