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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 59 (1981), S. 985-994 
    ISSN: 1432-1440
    Keywords: Puberty ; Sexual development ; Sexual hormones ; Growth ; Sceletal maturation ; Growth hormone ; Acceleration ; Sexual precocity ; Delayed puberty ; Pubertät ; Geschlechtsentwicklung ; Geschlechtshormone ; Wachstum ; Skelettreifung ; Wachstumshormon ; Akzeleration ; Frühreife ; Verzögerte Pubertät
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Die Pubertät beginnt beim Mädchen 1 1/2–2 Jahre früher als beim Jungen. Während die Produktion der Geschlechtshormone in der weiblichen Pubertät allmählich zunimmt, steigt beim Jungen die Sekretion des Testosterons in zwei Jahren äußerst steil an. Im Zusammenhang damit treten beim Knaben sehr viel häufiger psychische Störungen in Erscheinung als beim Mädchen. In den vergangenen 150 Jahren ist der Beginn der Geschlechtsreifung zeitlich beträchtlich vorgerückt. Mitte des 19. Jahrhunderts erfolgte die Menarche mit 17 Jahren, heute mit 12 1/2 Jahren. Ursache dieser säkularen Akzeleration ist die verbesserte Ernährung, namentlich mit Eiweiß. Voraussetzung für den früheren Pubertätsbeginn ist das raschere Erreichen des früher für 10/11-Jährige chrakteristischen Wachstums-und Entwicklungsstadiums (Größe, Gewicht, Knochenalter). Auch die physiologischen Varianten der Pubertät, die konstitutionelle Frühentwicklung und die verzögerte Entwicklung, beruhen auf präpubertären Unterschieden des Wachstumstempos und der Wachstumshormonsekretion. Im Gegensatz dazu beruhen die krankhaften Varianten der Pubertät, die echte Frühreife und die Pubertas tarda i.e.S., auf pathologischen Prozessen, die auf einer der drei Ebenen Hypothalamus, Adenohypophyse oder Keimdrüsen lokalisiert sind.
    Notes: Summary Puberty commences in girls 1.5–2 years earlier than in boys. Whereas the production of sexual hormone in the female increases gradually, testosterone secretion in the male rises steeply within two years. In connection with this boys are suffering more often from emotional disturbances than girls during puberty. During the last 150 years the onset of puberty has considerably advanced. In the middle of the last century, menarche occurred at age 17; today, however, at age 12.5. This secular acceleration is caused by improved nutrition, mainly with proteins. Presupposition for the earlier onset of puberty is an earlier arriving at the developmental stage (height, weight, bone maturation) which formerly was characteristic for prepubertal children of 10/11 years. Also the physiologic variants, i.e., the so-called early normal puberty and constitutional delay of growth and adolescence, base on prepubertal differences in growth velocity and growth hormone secretion. In contrast to this, the pathologic variants of sexual development, i.e., true sexual precocity and pubertas tarda s.s., are caused by various pathologic processes located in one of the three areas: hypothalamus, pituitary, or gonads.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 46 (1968), S. 202-207 
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The evaluation of the metapyrone-test by estimation of the total 17-hydroxy-corticosteroids may be difficult in some cases even after separation of polar and less polar compounds by solvent distribution. For these cases a simple differentiation by thin-layer-chromatography gives more information. The urinary extracts are fractionated by repeated development in five solvent-systems of ascending polarity on the same plate. The THF+THE-fraction (=cortisol-metabolites) and the THS-fraction (=11-deoxycortisolmetabolites) are eluted, the amounts of reducing steroids are estimated by the blue-tetrazolium reaction. The results of 15 metapyrone-tests estimated by solvent-distribution compared with those estimated by thin-layer-chromatography are reported. In 7 cases the 2.5-fold increase of Porter-Silber-chromogen excretion, as parameter of normal function of the adrenocortical stimulation, was not achieved. In 3 of these cases the reason for pathological reaction was evident (suprasellar tumour, M. Addison). In 2 cases with primary hypothyroidism the increase of Porter-Silberchromogenes was lower, but solvent-distribution and thin-layer-differentiation demonstrated a high increase of 11-deoxysteroids, thus demonstrating a normal adrenocortical stimulation. Two children with M. Cushing (onset of disease: 3 and 5 years) failed to show the usual high increase of Porter-Silber-chromogenes. As it became evident especially from chromatographic separation, inhibition of 11-hydroxylase was obvious but further stimulation was not achieved, for the excretion of 11-deoxymetabolites did not surmount the total production before inhibition. It is recommended to use a solvent-distribution for evaluation of the metapyrone-test in any case. In tests with insufficient increase of steroid excretion a separation by thin-layer-chromatography is more indicative.
    Notes: Zusammenfassung Die Beurteilung des Metopirontests durch Bestimmung der Gesamtcorticosteroidausscheidung ist in Grenzfällen auch nach getrennter Bestimmung der polaren und apolaren Steroide durch Lösungsmittelverteilung schwierig. Es wird eine dünnschichtchromatographische Fraktionierung durch mehrfache Entwicklung eines Urinextraktes in 5 Lösungsmitteln aufsteigender Polarität aufeiner Kieselgelplatte angegeben. Nach Eluierung einer THF+THE-Fraktion sowie einer THS-Fraktion wird der Gehalt an reduzierenden Steroiden semiquantitativ mit Blautetrazolium bestimmt. Die Ergebnisse der Auswertung nach Lösungsmittelverteilung und nach Dünnschichtchromatographie werden bei 15 unausgewählten Metopirontests mitgeteilt. In 7 der 15 Tests war der geforderte 2,5fache Anstieg der Porter-Silber-Chromogene nicht erreicht worden. In 3 Fällen (supra-sellärer Tumor, M. Addison) war die Ursache des pathologischen Testausfalls offensichtlich. In 2 Fällen mit primärer Hypothyreose ließ erst die differenzierte Auswertung die ausreichende Stimulierung aufgrund des starken Anstiegs der THS-Fraktion erkennen. Bei 2 Kindern mit M. Cushing mit sehr frühem Krankheitsbeginn konnte durch die differenzierte Bestimmung das Ausbleiben der corticotropen Stimulation trotz ausreichender Blockade der 11-Hydroxylase nachgewiesen werden. Es wird empfohlen, die Lösungsmittelverteilung in jedem Fall zur Auswertung des Tests zu benutzen. In Grenzfällen, in denen das Ausmaß der Blockade und der Grad der adrenocorticotropen Stimulierung genauer beurteilt werden soll, ist die dünnschichtchromatographische Auftrennung nützlich, da die Trennung exakter ist.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 139 (1982), S. 214-238 
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 140 (1983), S. 109-111 
    ISSN: 1432-1076
    Keywords: Cerebral gigantism ; Somatomedin ; Growth hormone
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In five cases of Sotos Syndrome serum somatomedin activities were measured. In two of these cases elevated levels and an increased secretion of growth hormone was observed. In one case (index case) a suspected hypothalamic tumor mass could be excluded, but hydrocephalus with increased intracranial pressure was present. The pathogenesis of gigantism in this syndrome is discussed.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 148 (1988), S. 220-227 
    ISSN: 1432-1076
    Keywords: Noonan syndrome ; Growth ; Ullrich-Turner syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We have analysed growth and the major clinical manifestations of 144 patients (89 males, 55 females) with Noonan syndrome from two West German centres. Size at birth was normal in both sexes. In both males and females, the mean height followed along the 3rd per centile until puberty, but decreased transiently due to an approximately 2 year delay in onset of puberty. Final height approaches the lower limits of normal at the end of the 2nd decade of life. The mean adult height was found to be (n=20) 162.5 cm in males and (n=13) 152.7 cm in females, respectively. Smoothed means and standard deviations for height were derived. These data may be used for the statistical evaluation of height of Noonan syndrome patients. Except for mental retardation and microcephaly, which are more frequent in males, the relative frequencies of minor anomalies and malformations were found to be similar in both sexes. The characteristic non-cyanotic heart defects in the Noonan Syndrome do not appear to have a major influence on growth. The auxological data were compared with those in the Ullrich-Turner syndrome.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1076
    Keywords: GRF ; Growth hormone deficiency ; Somatomedin C
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Growth hormone (GH) responses to GRF (1 μg/kg BW i.v.) were investigated. Comparison between GRF(1–40) and GRF(1–29)NH2 in 11 young adult volunteers gave identical results. One hundred and thirty-one children and adolescents (45 with idiopathic GHD) were tested with GRF (1–29)NH2. The maximal GH levels (max GH) in response to GRF during the 120 min test period were found suitable to characterize the response. In cases without GHD no correlation to age, sex and pubertal development was observed. A maximal GH level of above 10 ng/ml was found to be normal. In 3 out of 86 children without GHD (one with Turner syndrome; two with simple obesity) max GH fell short of 10 ng/ml, while 11 of 45 cases with GHD exceeded this margin. In GHD, max GH was inversely correlated with age. There was no difference in max GH between groups with or without perinatal pathology as a presumed cause of GHD. GH levels to GRF were positively correlated with maximal GH level during sleep in GHD, but not correlated with responses seen to insulin or arginine. The value of GRF testing for the confirmation of GHD is discussed in the light of other GH stimulatory tests and basal somatomedin C measurements. It is suggested that the combination of testing with GRF and the determination of a basal SmC level offers a safe and convenient way to diagnose GHD in clinically suspected cases, though in some cases further diagnostic tests may be needed.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-1076
    Keywords: Midline defects ; Anophthalmos ; Microphthalmos ; Cryptophtalmos ; Hypothalamic defects
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Four children with severe congenital eye anomalies are described of which three had related symptoms. Two had bilateral anophthalmia, the optic nerves not detectable by computed cranial tomography and magnetic resonance imaging, and the third child had bilateral microphthalmia and coloboma iridis. The fourth patient had bilateral cryptophthalmia as part of Fraser syndrome. All four patients were of small stature. In three of them growth hormone deficiency was demonstrated which was of hypothalamic origin as shown by growth hormone releasing hormone tests. In the fourth child hypogonadotropic hypogonadism and tertiary thyroid deficiency were diagnosed which responded well to thyroxine treatment. Pathogenetically the described disorders are due to congenital defects of midline structures as a common “developmental field”.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 120 (1975), S. 283-292 
    ISSN: 1432-1076
    Keywords: Intrauterine growth retardation ; Postnatal growth retardation ; Retardation of weight gain ; Microcephaly ; Mild mental retardation ; Malformation syndrome ; Recessive inheritance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung 2 Patienten mit dem noch wenig bekannten Dubowitz-Syndrom werden beschrieben. Hauptsymptome sind intrauterine und postnatale Wachstumsverzögerung, Mikrocephalie, Hyperaktivität, mäßige geistige Retardierung, allgemeine Bänderschlaffheit und charakteristische Anomalien der Facies, wie ausgeprägter Epicanthus, Blepharophimose, Verbreiterung der Nasenwurzel und-spitze, Retrogenie. Hinzukommen können submucöse Gaumenspalte, Klinodaktylie der Kleinfinger, Fußanomalien, cutane Syndaktylie der 2. und 3. Zehen, Steißbeingrübchen und Kryptorchismus. Bisher wurden 11 Patienten mit diesem offensichtlich seltenen, wahrscheinlich autosomal recessiv erblichen Syndrom beschrieben. Differentialdiagnostisch muß im Rahmen der intrauterinen Dystrophien vor allem das fetale Alkohol-Syndrom ausgeschlossen werden, das exogen verursacht ist.
    Notes: Abstract Two patients with the Dubowitz syndrome are presented. This presumably recessive inherited syndrome was first defined by Grosse et al. (1971). So far 11 patients with this syndrome have been described. Major clinical findings are intrauterine and postnatal growth retardation, considerable microcephaly, mild mental retardation, hyperactivity, hyperextensibility of joints, eczema and a characteristic appearance of the face due to marked epicanthic folds, blepharophimosis, broadening of the bridge and tip of the nose and retrognathia. Minor anomalies as clinodactyly of the fifth digits, cutaneous syndactyly of toes, foot deformity, sacral dimple and cryptorchidism may be seen. The exclusion of the non genetic fetal alcohol syndrome presents serious diagnostic problems.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 121 (1976), S. 155-177 
    ISSN: 1432-1076
    Keywords: Alcohol ; Alcohol dehydrogenase ; Disturbed brain development ; Skeletal malformations ; Congenital heart anomalies ; Embryonic virilisation ; Intrauterine hypoplasia ; Postnatal growth retardation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wird über 24 Kinder mit efAS berichtet. Die Symptomatik entsprach in den Grundzügen dem von Lemoine et al. und Jones et al. mitgeteilten Krankheitsbild; die von Jones et al. angegebene Hypoplasie des Oberkiefers und Mikrophthalmie konnten wir jedoch nicht bestätigen. Zusätzlich beobachteten wir bei 2 Mädchen Virilisationen des Genitales, die einem Pseudohermaphroditismus femininus entsprachen. Auxologisch wurde ein nahezu gesetzmäßiges Muster der gemessenen Parameter festgestellt. Die intrauterine Hypotrophie setzt sich auch nach der Geburt fort. Vor allem der Schädelumfang bleibt postnatal als Ausdruck des mangelhaften Gehirnwachstums zurück. Die cerebrale Läsion führt zur Oligophrenie und zu einem charakteristischen Muster des psychischen und motorischen Verhaltens. In leichten und mittelschweren Fällen besteht eine Tendenz zur Besserung dieser Symptome. Hinsichtlich der Pathogenese lassen die klinischen Beobachtungen in Verbindung mit den neueren Tierexperimenten folgende Schlüsse zu: Weder die Unterernährung noch die Leberschädigung der Mutter sind pathogenetische Voraussetzungen des efAS. Teratogenetisch scheint der Alkohol selbst die Hauptrolle zu spielen. Der beim Abbau des Äthanols normalerweise entstehende Acetaldehyd wirkt zwar ebenfalls cytotoxisch, doch ist gerade die Leber des Embryos und Fetus auf Grund ihres Mangels an Alkoholdehydrogenase kaum in der Lage, Äthanol zu metabolisieren.
    Notes: Summary The symptomatology in 24 patients with the embryo-fetal alcohol syndrome in this study corresponded essentially to the clinical picture described by Lemoine et al., and Jones et al., although we were not able to confirm the maxillary hypoplasia and microphthalmia mentioned in the latter. In addition, we observed in 2 girls a virilization of the genitalia which corresponded to female pseudohermaphroditism. Auxologically a nearly regular pattern of the parameters measured was found. The intrauterine hypotrophy continues after birth. In particular, the head circumference, reflecting the brain growth, remains low. The cerebral damage leads to oligophrenia with a typical pattern of psychic and motor behaviour. Moderate cases tend to improve. Concerning the pathogenesis, the clinical observations in connexion with recent animal experiments permit the following conclusions. Neither the malnutrition nor the liver damage of the mothers are necessary presuppositions. Ethanol itself appears to play the main teratogenetical rôle. Acetaldehyde, which is the primary metabolite of ethanol, is cytotoxic too. However, the liver of the embryo and the fetus, in consequence of its deficient alcohol dehydrogenase content, is not able to metabolize ethanol.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 132 (1979), S. 221-238 
    ISSN: 1432-1076
    Keywords: Idiopathic growth hormone deficiency ; Diagnosis ; Aetiology ; Treatment ; Prognosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The results of long term treatment with human growth hormone (Crescormon®, 12.4 IU/m2/week) in 36 patients with idiopathic growth hormone deficiency are given. Birth trauma—in particular assisted breech delivery (30%)—is the major aetiological cause. Twelve patients had isolated growth hormone deficiency (IGHD), 24 had multiple pituitary hormone deficiencies (MPHD) of which 19 were treated with additional thyroid hormones. The results were judged by the criteria of height velocity, total height gain and change of height prediction (TW2, age based). It is concluded that the growth hormone dose chosen in many cases is insufficient to maintain high growth rates after the first year of treatment, when “catch-up” no longer takes place. The tendency of patients supplemented with thyroid hormone to grow better—without additional bone-age advancement—calls for careful search for hypothyroidism and suggests the use of thyroxin in cases of doubt.
    Type of Medium: Electronic Resource
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