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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Archives of gynecology and obstetrics 242 (1987), S. 723-723 
    ISSN: 1432-0711
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Wachstumshormon ; Kleinwuchs ; Therapie ; Demographie ; Pharmakoepidemiologie ; KIGS [Kabi] Pharmacia & Upjohn International Growth Study) ; Key words Growth hormone ; Short stature ; Therapy ; Demography ; Pharmaco-epidemiology ; KIGS
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Recombinant growth hormone (rGH) therapy in the treatment of children with short stature was introduced 10 years ago, and experience has shown that progress in implementing this mode of therapy depends increasingly on analyses of large pharmaco-epidemiological studies. These studies prove that the diagnosis of growth hormone deficiency, whatever the cause or pathogenetic form, is the most frequent indication for GH therapy. The remaining problems are timely and precise diagnosis, and the best possible and individual therapy aiming at the projected height and taking safety and costs into account. We are closer to solving these problems today than ever before. Apart from this, the use of GH in treating short stature in Turner syndrome and renal insufficiency has led to its acceptance as a suitable therapy for these patients. Height improvement in a number of other growth disorders is, in certain cases, also possible through GH therapy. In the light of current experience, GH therapy can thus be attempted on a rational basis in individual cases. This form of treatment clearly holds wider possibilities and its implementation is likely to go beyond short stature in the future.
    Notes: Zusammenfassung 10 Jahre nach der Einführung von rekombinantem Wachstumshormon (WH) in die Therapie kleinwüchsiger Kinder werden unsere Erfahrungen zunehmend auch durch Analyse umfangreicher pharmako-epidemiologischer Beobachtungen geprägt. Wachstumshormonmangel: Diese zeigen, daß der Wachstumshormonmangel in seinen unterschiedlichen Ursachen und pathogenetischen Erscheinungsformen nach wie vor die häufigste Indikation für WH darstellt. Die Probleme bestehen weiterhin in der rechtzeitigen und rationellen Diagnostik und in der Optimierung und Individualisierung der Therapie zum Erreichen der Wachstumsziele unter ökonomischen Gesichtspunkten und bei gleichzeitiger therapeutischer Sicherheit. Diese Probleme sind für den WH-Mangel heute lösbar. Weitere Indikationen: Ferner zeigt sich, daß auch der Kleinwuchs beim Ullrich-Turner-Syndrom und bei der Niereninsuffizienz, für welche WH zugelassen ist, erfolgreich behandelt werden kann. Bei einer Vielzahl anderer Wachstumsstörungen ist die Möglichkeit zur Größenverbesserung im Einzelfall gegeben. Vor dem Hintergrund heutiger Erfahrungen kann ein individueller Heilversuch so auf eine rationale Basis gestellt werden. Zukunftsperspektiven: In Zukunft wird das breite Wirkpotential von Wachstumshormon über die Indikation des Kleinwuchses hinaus ausgeschöpft werden.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 157 (1998), S. 634-642 
    ISSN: 1432-1076
    Keywords: Key words Prader-Willi syndrome ; Weight ; Growth ; Final height ; Body mass index
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The spontaneous growth of 315 patients (109 girls and 208 boys) with Prader-Willi syndrome (PWS) was analysed in a mixed longitudinal and cross-sectional manner. 33 patients were seen in the department between 1970 and 1994; height and weight of 76 patients from Germany were evaluated by means of a questionnaire with detailed measuring instructions, and 206 definite cases were added from the literature. Mean (±SD) length of newborn babies with PWS was 50.2 ± 2.8 cm (145 boys) and 48.9 ± 3.3 cm (79 girls). Mean weight at birth was 2945 ± 570 g in boys and 2782 ± 594 g in girls. During the 1st year, the children's growth was nearly normal, thereafter short stature was present in approximately 50% of PWS patients. Between 3 and 13 years of age, the 50th percentile for height in PWS is roughly identical with the 3rd percentile in healthy controls. Body weight was normal for all boys and girls during the first 2 years. Thereafter, a rapid weight gain occurred; after an age of 10 years weight-for-height index in nearly all patients exceeded the normal range. The extent of pubertal growth was reduced for the group. Mean adult height was 161.6 ± 8.1 cm (23 males) and 150.2 ± 5.5 cm (21 females). Head circumference for age was normal for boys and girls. Conclusion Reference data on spontaneous development of growth and weight gain of children with Prader-Willi syndrome are described allowing a better counselling of patients and parents.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 154 (1995), S. 958-968 
    ISSN: 1432-1076
    Keywords: Silver-Russell syndrome ; Growth ; Bone maturation ; Symptoms
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The spontaneous growth of 386 patients (163 girls and 223 boys) with Silver-Russell syndrome (SRS) was analysed in a mixed longitudinal and cross-sectional manner. One hundred and twenty patients were seen in the two centres between 1970 and 1993, additional definite cases were added from the literature. Mean (± SD) length of full-term babies with SRS at birth was 43.1±3.7 cm (n=102) in both sexes. Mean weight at birth was 1940±353 g in boys and 1897±325 g in girls. During the first 3 years of life there was poor growth with a further loss in height. Between ages 4 and 10 years there was constant growth in parallel to the 3rd percentile with a mean height SDS of −4.3. The pubertal growth spurt was reduced in the whole group. Bone age development paralleled growth, retardation increased during the first years, remained constant during prepubertal time and caught up in early puberty. Mean adult height was 151.2±7.8 cm in males and 139.9±9.0 cm in females. Head circumference for age was in the lower normal range (mean SDS for 156 prepubertal boys −1.8; mean SDS for 97 prepubertal girls ≈2.2). Conclusion Normative data on spontaneous growth of children with Silver-Russell syndrome are described, allowing a better counselling of patients as well as the judgement of the effects of growth promoting therapies.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 154 (1995), S. 182-186 
    ISSN: 1432-1076
    Keywords: Key words Isolated premature thelarche ; Central precocious puberty ; Pelvic ultrasonography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We examined 55 girls with isolated premature thelarche between the ages of 0.3 and 7.4 years (group A), 20 children with central precocious puberty between 2.1 and 7.7 years of age and 101 age-matched controls. The children with precocious puberty were divided according to distribution of pubic hair into group B (Tanner stages PH1, B2–3; n = 11), representing an early stage of the disorder, and group C (stages PH2–3, B3–4; n = 9), representing an advanced stage. Uterine and ovarian volumes were measured sonographically, peak serum levels of luteinizing hormone and follicle-stimulating hormone were determined after intravenous administration of luteinizing hormone-releasing hormone. The mean uterine and ovarian volumes were significantly greater in children with precocious puberty than in controls (group B: uterine volume: 3.8 ± 2.0 ml vs 0.9 ± 0.3 ml for controls, P 〈 0.001; ovarian volume: 2.2 ± 1.3 ml vs 0.6 ± 0.2 ml for controls, P 〈 0.01; group C: uterine volume: 8.0 ± 4.4 ml vs 1.0 ± 0.3 ml for controls, P 〈 0.01; ovarian volume; 2.6 ± 1.3 ml vs 0.4 ± 0.1 ml, P 〈 0.01). No significant differences were found between children with premature thelarche and the control group. As a diagnostic method for the early detection of central precocious puberty, ultrasound measurement of uterine volume had a sensitivity and specificity of 100% (cut-off value, 1.8 ml), while ultrasound determination of ovarian volume had a sensitivity of 82% and a specificity of 95% (cut-off value, 1.2 ml). In contrast, as a diagnostic criterion the ratio of levels of luteinizing hormone to follicle-stimulating hormone as determined following stimulation with luteinizing hormone releasing hormone had a sensitivity of 33% and a specificity of 100% (cut-off value, 1.0). Conclusion: ultrasonographic measurement of uterine and ovarian volume offers a reliable means of distinguishing between isolated premature thelarche and early stages of central precocious puberty.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1076
    Keywords: Key words Androgen receptor ; Androgen insensitivity syndrome ; Somatic mosaicism ; Pseudohermaphroditism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Recently, we demonstrated a previously unknown high rate of de novo mutations of the androgen receptor (AR) gene in androgen insensitivity syndrome (AIS) with some resulting in somatic mosaicism of mutant and wild type AR alleles. However, data on the genotype-phenotype relationship in the latter patients are sparse. We present here a 46,XY newborn with ambiguous genitalia carrying a mosaic of an 866 GTG (Val) → ATG (Met) mutation with the wild type AR gene. This mutation has usually been associated with complete AIS. Accordingly, we found markedly impaired transactivation due to the mutant Met866 AR. Essential information arose from Scatchard analysis of methyltrienolone binding on cultured genital skin fibroblasts. We demonstrated for the first time the expression of two functionally different ARs (Kd1: 5.58 nM = mutant, Kd2: 0.06 nM = wild type) in one AIS individual. This finding not only represents an important confirmation for the presence of the somatic mosaicism in the patient, it also indicates the most likely molecular mechanism responsible for the unexpectedly strong virilization of the patient: Androgen action through the wild type AR expressed by part of the somatic cells. Conclusions The present case clearly demonstrates the molecular mechanism by which somatic mosaicism of the androgen receptor gene can modulate in vivo androgen action. It underlines the importance of particular notice on somatic mosaicism in all androgen insensitivity syndrome patients carrying de novo mutations of the androgen receptor gene.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 154 (1995), S. 182-186 
    ISSN: 1432-1076
    Keywords: Isolated premature thelarche ; Central precocious puberty ; Pelvic ultrasonography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We examined 55 girls with isolated premature thelarche between the ages of 0.3 and 7.3 years (group A), 20 children with central precocious puberty between 2.1 and 7.7 years of age and 101 age-matched controls. The children with precocious puberty were divided according to distribution of pubic hair into group B (Tanner stages PH1, B2–3;n=11), representing an early stage of the disorder, and group C (stages PH2–3, B3–4;n=9), representing an advanced stage. Uterine and ovarian volumes were measured sonographically, peak serum levels of luteinizing hormone and folliclestimulating hormone were determined after intravenous administration of luteinizing hormone-releasing hormone. The mean uterine and ovarian volumes were significantly greater in children with precocious puberty than in controls (group B: uterine volume: 3.8±2.0 ml vs 0.9±0.3 ml for controls,P〈0.001; ovarian volume: 2.2±1.3 ml vs 0.6±0.2 ml for controls,P〈0.01; group C: uterine volume: 8.0±4.4 ml vs 1.0±0.3 ml for controls,P〈0.01; ovarian volume: 2.6±1.3 ml vs 0.4±0.1 ml,P〈0.01). No significant differences were found between children with premature thelarche and the control group. As a diagnostic method for the early detection of central precocious puberty, ultrasound measurement of uterine volume had a sensitivity and specificity of 100% (cut-off value, 1.8 ml), while ultrasound determination of ovarian volume had a sensitivity of 82% and a specificity of 95% (cut-off value, 1.2 ml). In contrast, as a diagnostic criterion the ratio of levels of luteinizing hormone to follicle-stimulating hormone as determined following stimulation with luteinizing hormone releasing hormone had a sensitivity of 33% and a specificity of 100% (cut-off value, 1.0). Conclusion: ultrasonographic measurement of uterine and ovarian volume offers a reliable means of distinguishing between isolated premature thelarche and early stages of central precocious puberty.
    Type of Medium: Electronic Resource
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