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Biomedical subjects

E A Werder

Publications and source records attributed to E A Werder.

At least 19 recordsLinked to original sources
PubMed2001

Psychological evaluation of young women after medical treatment for central precocious puberty.

OBJECTIVE: This study aimed at the evaluation of the subjective experience and long-term behavioral and psychological effects of precocious puberty (PP). METHODS: 19 female patients who had been treated with GnRH agonists participated in a semistructured interview and completed two standardized checklists. Their parents completed the Child Behavior Checklist (CBCL). RESULTS: The CBCL yielded significantly elevated Internalizing and Total Behavior Problem scores. An elevated risk was found for patients with short adult stature and a relatively late onset of PP. The latter tended to neuroticism, to accentuation of their physical appearance, and felt significantly more insecure than age-related non-PP girls. CONCLUSION: Our findings suggest that PP can lead to specific behavioral problems, and that patients with a risk factor may need psychosocial support.

Adaptation, Psychological↗
PubMed1997

Growth promotion and Turner-specific bone age after therapy with growth hormone and in combination with oxandrolone: when should therapy be started in Turner syndrome?

The aims of this comparative multicenter study of 67 girls with Turner syndrome (TS) on three different therapeutical regimens were, first, to evaluate the effect of either recombinant human growth hormone (GH) alone or in combination with the anabolic steroid oxandrolone (Oxa) on height velocity and on Turner-specific bone age (BA'TS) and, second, to estimate the gain in final height taking the age at the onset of treatment into account. The mean advancement of BA'TS in 2 years of treatment was 2.5 years/2 years in group 1 (low dose GH: 16 IU/m2/week), 2.8 years/2 years in group 2 (high dose GH: 28 IU/m2/week) and 3.3 years/2 years in group 3 (GH: 24 IU/m2/week + Oxa: 0.06 mg/kg/day) instead of the expected 2 years/2 years advancement in untreated girls with TS. On all treatment regimens the advancement of BA'TS was more pronounced in the younger girls. In many girls with a BA'TS below 9 years at the onset of treatment the increase in height did not outweigh the advancement in BA'TS, suggesting that starting growth-promoting treatment before 9 years would not be the best way to improve final height. In our opinion, the optimal age for starting growth-promoting therapy is at 9 years. A start at a younger age might have no advantage in regard of an ultimate gain in final height. On the other hand, therapy should not be delayed much after the age of 9 years giving the girls with TS the possibility to catch up substantially before estrogen treatment is initiated.

Age Determination by Skeleton↗
PubMed1995

Replacement of growth hormone (GH) in normally growing GH-deficient patients operated for craniopharyngioma.

Removal of a craniopharyngioma usually results in panhypopituitarism. Some children, however, grow normally or even excessively after extirpation of the tumor despite a proven lack of GH and have so far not been treated with hGH. We studied the effects of short (2-day) and long term (1-yr) administration of hGH on metabolism and growth in six patients receiving regular hormonal replacement therapy. During short term human (h) GH treatment, 15N retention was not significantly increased (mean +/- SEM, 115.4 +/- 9.6% of basal balance) and was not different from the control value. In contrast, 15N retention was 210.3 +/- 20.7% in children with GH deficiency from other causes. Long term administration of hGH (2 IU/m2.day, sc, for 12 months) did not influence growth velocity, but increased the calf circumference and decreased the body mass index and skinfold thickness in prepubertal patients. Insulin-like growth factor-I (IGF-I), IGF-binding protein-3 (IGFBP-3), and the 150-kilodalton IGFBP complex were decreased before and restored to normal during treatment. The reverse was observed for the 50-kilodalton IGFBP complex. Growth (velocity) in these patients did not correlate with any of the usual indicators of the growth status and remains unexplained. Although hGH did not affect growth, it had other beneficial effects and is recommended for these patients.

Adolescent↗
PubMed1995

Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection.

Studies of uniparental disomy and origin of nonmosaic trisomies indicate that both gain and loss of a chromosome can occur after fertilization. It is therefore of interest to determine both the relative frequency with which gain or loss can contribute to chromosomal mosaicism and whether these frequencies are influenced by selective factors. Thirty-two mosaic cases were examined with molecular markers, to try to determine which was the primary and which was the secondary cell line: 16 cases of disomy/trisomy mosaicism (5 trisomy 8, 2 trisomy 13, 1 trisomy 18, 4 trisomy 21, and 4 involving the X chromosome), 14 cases of 45,X/46,XX, and 2 cases of 45,X/47,XXX. Of the 14 cases of mosaic 45,X/46,XX, chromosome loss from a normal disomic fertilization predominated, supporting the hypothesis that 45,X might be compatible with survival only when the 45,X cell line arises relatively late in development. Most cases of disomy/trisomy mosaicism involving chromosomes 13, 18, 21, and X were also frequently associated with somatic loss of one (or more) chromosome, in these cases from a trisomic fertilization. By contrast, four of the five trisomy 8 cases were consistent with a somatic gain of a chromosome 8 during development from a normal zygote. It is possible that survival of trisomy 8 is also much more likely when the aneuploid cell line arises relatively late in development.

Aneuploidy↗
PubMed1994

Virilizing adrenal tumour mimicking congenital adrenal hyperplasia with P450c11 (11 beta-hydroxylase) deficiency.

In a girl aged 5 years with a virilizing adrenal adenoma the urinary and plasma steroid findings suggested the diagnosis of congenital adrenal hyperplasia due to P450c11 (11 beta-hydroxylase) deficiency. After removal of the tumour clinical signs receded and the hormonal values normalized. RNA analysis of the tumour tissue revealed low amounts of P450c11 mRNA which indicates that P450c11 deficiency of the adenoma caused the steroid abnormalities in this girl.

Adenoma↗
PubMed1993

Exclusively paternal X chromosomes in a girl with short stature.

A 13 1/2 year-old girl with short stature and very few Turner stigmata revealed 45,X/46,XX mosaicism with 90%-100% 46,XX cells in three sequential blood lymphocyte cultures. Molecular investigation of the parental origin of her X chromosomes revealed homozygosity for paternal X markers and an absence of maternal markers. Luteinizing hormone response to growth hormone releasing hormone was increased. Impaired gonadal function and shortness of stature in this case could be a result of the mild mosaicism with a 45,X cell line and/or is a consequence of the paternal-only origin of her X chromosomes.

Adolescent↗
PubMed1993

Pericardial effusion as a sign of acquired hypothyroidism in children with Down syndrome.

In three children with Down syndrome and acquired hypothyroidism echocardiography was performed before and after the start of L-thyroxine treatment. Initial studies revealed pericardial effusions which resolved during treatment suggesting that they were caused by hypothyroidism. The incidence of hypothyroidism in Down syndrome is high, but the diagnosis is often missed for lack of specific clinical criteria. The finding of pericardial effusion by echocardiography may be essential in discovering thyroid dysfunction. The cases illustrate that regular thyroid function tests are important in Down syndrome.

Child↗
PubMed1993

Deficiency of 17-ketoreductase presenting before puberty.

The diagnosis of 17-ketoreductase deficiency is established in most patients at or after puberty when basal plasma androstenedione levels are high; data on prepubertal children are limited. Two infants with external female genitalia presented in infancy with inguinal herniae and palpable gonads. Both had a 46,XY karyotype, a short vagina, absent uterus, and a gonadal biopsy showing testicular tissue. The value of an hCG stimulation test in making the diagnosis of 17-ketoreductase deficiency was confirmed by a minimal plasma testosterone but marked androstenedione response. Androgen receptor deficiency based on studies in genital skin fibroblasts was demonstrated in one of the cases. We speculate that this is possibly the result of failed induction of receptors secondary to androgen deficiency. Though 'tomboyish' in behaviour, both children are reared as girls.

17-Hydroxysteroid Dehydrogenases↗
PubMed1992

Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS).

An exonic single nucleotide substitution in the human androgen receptor gene (hAR) could be detected in an Italian family with two children affected by complete androgen insensitivity syndrome (CAIS), also called testicular feminization. This mutation leads to a guanine to adenine transition in exon 5, changing the sense of the codon from methionine (ATG) to valine (GTG). As this mutation abolishes a NcoI restriction site, a rapid test for the mutation can be performed by digestion of the polymerase chain reaction products with this enzyme. Previous results of indirect gene diagnosis in this family could be confirmed by this method.

Amino Acid Sequence↗
PubMed1991

Recombinant human insulin-like growth factor I (rhIGF I) reduces hyperglycaemia in patients with extreme insulin resistance.

The syndrome of type A insulin resistance is encountered in young women and is characterized by glucose intolerance or frank diabetes mellitus, endogenous hyperinsulinism, insensitivity to insulin administration, acanthosis nigricans and virilization. The insulin resistance is due to reduced cellular insulin binding because of a lack of or defective binding sites and/or because the interaction with the tyrosine kinase of the beta-subunit is hindered. This study was undertaken to find out whether hyperglycaemia in these patients may be influenced by the administration of recombinant human insulin-like growth factor I which exerts insulin-like effects through the insulin receptor as well as the type 1 insulin-like growth factor I receptor. Recombinant human insulin-like growth factor I was intravenously administered in two subsequent doses of 100 micrograms/kg body weight to three women with type A insulin resistance. An immediate but slow fall of blood glucose was observed. The glucose disappearance rate was 28.0 mumol/min, i.e. considerably lower than that seen in healthy subjects. The markedly elevated insulin and C-peptide levels fell in a parallel manner to blood glucose but not to normal levels. The results show that recombinant human insulin-like growth factor I, presumably by reacting with the type 1 insulin-like growth factor receptor, can normalize serum glucose levels in patients with severe insulin resistance at least for several hours. We suggest that the potential or recombinant human insulin-like growth factor I to control hyperglycaemia in type A insulin resistant patients should be explored in more depth.

Adolescent↗
PubMed1990

A physiological mode of puberty induction in hypogonadal girls by low dose transdermal 17 beta-oestradiol.

Transdermal 17 beta-oestradiol administration (17 beta-E2), used mainly in menopausal women, allows a continuous 17 beta-E2 delivery through the skin into the systemic circulation, avoiding intestinal and hepatic passage. In order to explore whether transdermal 17 beta-E2 could be used for the induction of puberty, 17 beta-E2 patches with low dose delivery were administered in nine prepubertal girls with Turner syndrome (bone age greater than 10.5 years) for a mean period of 2.2 years. Treatment schedule: 5 micrograms/day for 6-9 months, 10 micrograms/day for 6-9 months, 25 micrograms/day for long-term substitution; addition of cyclic gestagen p.o. after 18-24 months. Breast development started within 3 months of therapy and menstruation occurred after 2 years. Growth rate increased from 3.2 to 5.0 cm/year during the 1st year of therapy, height prediction did not change. Serum oestradiol (E2) and urinary E2 conjugates increased proportionally with 17 beta-E2 doses, serum oestrone (E1) rose much less. The possibility to imitate time course, clinical events and hormonal changes of normal puberty, the absence of adverse drug reactions and the excellent acceptance and easy mode of application suggest that transdermal 17 beta-E2 is optimally suited for hormonal substitution in girls with hypogonadism.

Administration, Cutaneous↗
PubMed1989

Neurohypophyseal ectopy in growth hormone insufficiency.

Nuclear magnetic resonance imaging of the hypothalamohypophyseal tract allows the detection and identification of ectopic posterior pituitary lobe tissue by its characteristic high signal intensity. We found this anomaly in 2 boys with growth hormone insufficiency. Neurohypophyseal ectopy may be misdiagnosed as subhypothalamic tumor and such patients risk to be subjected to unnecessary neurosurgery.

Child↗
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↗
PubMed1986

Prostaglandin excretion in pseudohypoaldosteronism type I.

In an infant with pseudohypoaldosteronism type I increased urinary excretion of PGE2 (1.32 ng/mg creatinine; normal mean +/- SE: 0.50 +/- 0.10) and PGF2 alpha (6.15 ng/mg creatinine; normal mean +/- SE: 2.93 +/- 0.91) was found. Prostaglandin excretion as well as the typical hyperkalemia, hyperreninemia and hyperaldosteronism normalized with adequate dietary salt supplementation. An abnormally high excretion of the renal prostaglandins was again present at age 4.4 years when the child was thriving although additional salt was withheld. These abnormalities are considered to be secondary to this condition's basic defect which remains to be elucidated.

Aldosterone↗
PubMed1983

Pseudohypoparathyroidism: inheritance and expression of deficient receptor-cyclase coupling protein activity.

Pseudohypoparathyroidism, Type I (PSP-I) is a familial disorder characterized by secondary hyperparathyroidism, resistance of urinary cyclic adenosine-3', 5'-monophosphate (cAMP) excretion to exogenous parathyroid hormone (PTH), and by effects upon other hormones, including thyrotrophin (TSH) hyperresponsiveness to thyroliberin (TRH). In the present study, 12 PSP-I patients in five families exhibited partial deficiency of receptor-cyclase coupling protein (N protein) in blood cells, in association with the skeletal findings of Albright's hereditary osteodystrophy. In one father and six mothers of PSP-I patients, deficient N protein activity was associated with normal urinary cAMP responses to PTH. In this group of seven parents, five had Albright's osteodystrophy, two exhibited secondary hyperparathyroidism, and two had TSH hyperresponsiveness to TRH. In a sixth family with none of the features of Albright's osteodystrophy, N protein deficiency did not correlate with urinary cAMP responsiveness to PTH. In this kindred, one mother with N protein deficiency, but normal urinary cAMP responsiveness to PTH had raised serum levels of immunoreactive PTH. We conclude that in the majority of families with PSP-I the urinary cAMP response to PTH is an inadequate indicator of the genetic defect. In such families, deficiency of N activity more consistently points to metabolic defects, including secondary hyperparathyroidism and TSH hyperresponsiveness, even when urinary cAMP responses are normal.

Calcium↗