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  • 1
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary An improved technique in testing adrenocortical function will be described, allowing to demonstrate the immediate, short-time response of the adrenal cortex in infants and children. After i.v. stimulation with 25 E of a synthetic ACTH-preparation 11-hydroxycorticoid (Cortisol) determination in an 8-hour-urine specimen is done by a fluorescence method. Values are compared with basal dates without stimulation. Normally, there is a 4–20 fold increase of the cortisol excretion. In adrenocortical insufficiency no increase is observed. In hypopituitarism, a decreased reactivity indicates an adrenocorticotrophic insufficiency.
    Notes: Zusammenfassung Es wird über eine verbesserte Technik der NNR-Funktionsdiagnostik berichtet, welche erlaubt, bei Säuglingen und Kindern im Harn von 8 Std nach i.v. Stimulation mit synthetischem ACTH mit bisher nicht erreichter Präzision und Einfachheit die kurzfristige Funktionsbereitschaft der NNR zu erfassen. Als biochemisches Kriterium wird eine vonDörner angegebene fluorometrische Methode der 11-Hydroxycorticoid-(Cortisol-)Bestimmung im Harn eingesetzt. Die Methode gestattet, neben der primären NNR-Insuffizienz die sekundäre NNR-Insuffizienz bei langfristiger Corticoidbehandlung und beim Panhypopituitarismus exakt zu erfassen. Die Methode ist technisch relativ einfach, wenig zeitaufwendig, erfordert jedoch ein Fluorometer.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1440
    Keywords: Pseudohermaphroditism ; Gynecomastia ; Androstenedione ; 17β-Hydroxysteroid-oxydoreductase deficiency ; Testosterone inborn error ; Pseudohermaphroditismus masculinus ; Gynäkomastie ; Androstendion ; 17β-Hydroxysteroid-oxydoreductase Defekt ; Testosteron-Synthesestörung
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Beschreibung eines Jungen mit Pseudohermaphroditismus maskulinus, mit normalem männlichen Karyotyp, welcher bei der Geburt als Mädchen angesehen worden war. Mit 12 Jahren Auftreten einer hochgradigen Gynäkomastie. Steroiduntersuchungen wurden mit Radiogaschromatographie und mit radioimmunologischen Methoden durchgeführt. Die Steroidbestimmungen ergaben im Plasma bei altersnormalen Testosteronspiegeln Androstendionwerte, welche die Norm um den Faktor 9–23 überstiegen. Die Plasmaoestrogene wurden insgesamt erhöht gefunden, Oestron weit mehr als Oestradiol. In Inkubationsversuchen vom bioptisch gewonnenen Hodengewebe des Jungen konnte gezeigt werden, daß zugesetztes markiertes Androstendion nur in geringem Maß zu Testosteron metabolisiert wurde, während normales Hodengewebe rund 60% zu Testosteron metabolisierte. Auf Grund dieser biochemischen Befunde wird eine Testosteron-Synthesestörung mit Defekt einer 17β-Hydroxy-steroid-Oxydoreduktase als Ursache des Pseudohermaphroditismus und der Gynäkomastie angenommen. Der Enzymdefekt ist bisher zweimal beschrieben, scheint aber nach entsprechender Untersuchung häufiger zu sein.
    Notes: Summary A boy with male pseuodhermaphroditism described here with normal male caryotype was at first raised as a girl. The error was detected within the first year of life. At the age of 12 years the boy developed a severe gynecomastia. At this time determinations of plasma and urinary steroids were undertaken. 17-ketosteroids and total 17-OHCS were determined by colorimetry. Plasma testosterone, androstenedione, 17α OH-progesterone, urinary pregnantriol and pregnantriolone were measured by GLC. Plasma estrone and estradiol were determined by radioimmunoassay (RIA). Investigations at 12 years of age and later revealed plasma testosterone in the lower normal range and androstenedione 9–23 times higher compared to normal boys. Plasma estrogens were found to be elevated, estrone much more than estradiol. Incubation studies with testicular tissue showed very little conversion of3H-androstenedione (15%) whereas normal testicular tissue converted up to 60% to3H-testosterone. On the basis of these data 17β-hydroxysteroid-oxydoreductase deficiency is suggested as the underlying cause of pseudohermaphroditism and gynecomastia in this boy. Up to the present this enzyme deficiency is described only two times but it would seem to be more frequent if one looked at the elevated androstenedione plasma level.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 55 (1977), S. 95-96 
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 56 (1978), S. 97-98 
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 58 (1980), S. 99-101 
    ISSN: 1432-1440
    Keywords: Ullrich-Turner-Syndrom ; Wachstumshormon-Mangel ; Wachstumshormon-Therapie ; Ullrich-Turner-Syndrome ; Growth hormone deficiency ; Growth hormone therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary In a girl with Ullrich-Turner-Syndrome (gonadal dysgenesis 45, XO) and growth hormone deficiency, 10 U of human growth hormone/m2 body surface area/week increased the growth rate from 2.0 to 4.1 cm/year. Doses of up to 36 U/m2/week did not improve the growth rate in 4 girls with Ullrich-Turner-Syndrome who had normal plasma growth hormone concentration and incretion. We conclude that growth hormone therapy is unsuccessful in dwarfism in Ullrich-Turner-Syndrome and should be reserved for patients with proven growth hormone deficiency.
    Notes: Zusammenfassung Bei einer 7jährigen Patientin mit dem Chromosomensatz 45 XO wurde mit Hilfe von Stimulationstesten ein Mangel an Wachstumshormon nachgewiesen. Die Wachstumsrate von 2 cm/Jahr ließ sich mit. Hilfe von humanem Wachstumshormon auf 4,1 cm/Jahr (2 Behandlungsjahre) und unter zusätzlicher Gabe von Anabolica auf 5,7 bzw, 5,4 cm/Jahr (3. bzw. 4. Behandlungsjahr) steigern. Bei vier Patientinnen mit Ullrich-Turner-Syndrom (2mal 45X/, 1mal 46XXqi, 1mal 45XO/46 XX-Mosaik) ohne Wachstumshormon-Mangel konnte keine gleichartige Verbesserung der Wachstumsrate erzielt werden. Eine Therapie mit humanem Wachstumshormon ist somit nur dann gerechtfertigt, wenn ein Mangel an Wachstumshormon zusätzlich als Ursache einer verminderten Wachstumsrate beim Ullrich-Turner-Syndrom nachgewiesen werden kann.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 60 (1982), S. 1473-1474 
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 54 (1976), S. 467-473 
    ISSN: 1432-1440
    Keywords: Cryptorchidism ; Male fertility ; Human chorionic gonadotrophin (HCG) ; Sperm count ; Hodenhochstand ; Maldescensus testis ; Kryptorchismus ; Fertilität (männlich) ; Humanes Choriongonadotropin (HCG) ; Spermatogramm
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Von 212 Patienten, welche vor 7 – 12 Jahren im Schulalter vor Pubertätsbeginn wegen eines Maldescensus testis mit humanem Choriongonadotropin (HCG) behandelt worden waren, konnten mit 17 Jahren oder später 151 nachuntersucht werden. Bei 121 wurde ein Spermatogramm durchgeführt. 10 Patienten konnten wegen Hypogonadismus kein Ejakulat gewinnen. Im Gesamtkollektiv der spermatographisch untersuchten Patienten (n=121) was es bei 78 unter HCG zu einem ausreichenden Descensus gekommen. Bei 43 war die HCG-Behandlung erfolglos, es erfolgte anschließend die operative Verlagerung. Vom Gesamtkollektiv (n=121) zeigten nur 39% ein normales Spermatogramm. Nach unilateralem Maldescensus waren 18%, nach bilateralem Maldescensus 43% als wahrscheinlich infertil einzuordnen. Spermienzahlen unter 1 Mill./ml nach bilateralem Maldescensus fanden Maier und Spann bei primär operativer Behandlung bei 9 von 17 Patienten. Nach gleichen Kriterien wurden in dieser Studie nach bilateralem Maldescensus und alleiniger HCG-Behandlung bei 9 von 35 die Spermienzahl von 1 Mill./ml unterschritten. Plasma LH und FSH konnte bei 93 Patienten gemessen werden. Hypergonadotrope FSH-Werte wurden bei 6 Patienten, alle mit Spermienzahlen unter 10 Mill./ml, gefunden. Nachträglich wurden im Gesamtkollektiv 3 Klinefelter-Syndrome festgestellt. Der Grund des Maldescensus ist nicht einheitlich. Anatomische, hormonale und chromosomale Ursachen sind möglich.
    Notes: Summary 151 out of 212 adolescents having had been treated by human chorionic gonadotrophin (HCG) before puberty because of undescended testes, were re-examined 7 to 12 years later at an individual age of at least 17 years. In 121 of them a semen specimen for sperm counts could be obtained. In 10 patients, however, no ejaculate could be collected because of their hypogonadism. 78 of these 121 patients examined by sperm count had a sufficient testicular descensus after HCG treatment. In 43 adolescents HCG therapy failed, therefore subsequent orchidopexy was performed. A normal sperm count was seen in only 39 per cent of the 121 patients. After unilateral testicular maldescensus 18%, after bilateral maldescensus 43% of the patients had to be evaluated as prospectively infertile. Maier and Spann reported sperm counts below 106/ml in 9 out of 17 patients with bilateral maldescensus who had been treated by surgery alone. In the present study, however, only 9 out of 35 individuals treated for bilateral maldescensus by HCG alone showed sperm counts below 106/ml. Plasma LH and FSH concentrations were determined in 93 patients, 6 out of which showed hypergonadotrophic values of FSH and sperm counts below 107/ml. Subsequently, 3 cases of Klinefelter's syndrome could be diagnosed among the total group of 121 patients. The etiology of testicular maldescensus is by no means uniform since anatomical, endocrine and/or chromosomal factors are involved.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 125 (1977), S. 135-141 
    ISSN: 1432-1076
    Keywords: Evans blue ; 125Iodinated albumin ; Plasma volume ; Capillary permeability
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Plasma volume was measured using Evans blue dye and 125iodinated human serum albumin (RIHSA) simultaneously in order to evaluate the accuracy of a simplified Evans blue method recommended by Nielsen and Nielsen (1962). 9 studies were performed in 8 newborn infants weighing 1.07 to 2.85 kg and 16 studies in 14 patients aged 6 months to 14 years suffering from severe circulatory disturbances. In 20 studies, plasma volumes measured by Evans blue and by RIHSA agreed within ±5%, and in all the studies within ±10%. The Evans blue method yielded higher plasma volumes than the RIHSA method in 19 instances. The mean difference (paired t-test) was only significant in newborn infants (+4.0±3.6%; P〈0.05). The disappearance rates of Evans blue exceeded that of RIHSA in 16 studies, but this was only significant in the patients older than 6 months (+2.3±4.2%/h; P〈0.05).
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 146 (1987), S. 194-195 
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 154 (1995), S. 627-632 
    ISSN: 1432-1076
    Keywords: Key words Final height ; Constitutional growth delay ; Height ; prediction ; Bone age ; Males
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on 49 boys with constitutional growth delay (CGD) who were initially seen in our clinic at a mean chronological age of 13.3 years (range, 7.3–16.4) and a bone age of 11.1 years (range, 6.0–13.5). All were below the 5th height percentile for chronological age. A positive family history with delayed growth and puberty in one or both parents could be elicited in 75%. All 49 patients were re-examined at a mean age of 22.9 years (range, 20.4–31.2). Measured final height was 171.3 cm (range, 161.2–181.7), which was slightly, but significantly lower than mean target height of 173.0 cm. Final height expressed as standard deviation score (SDS) of a male adult population standard was –1.0 (range, –2.4 to +0.5) , also significantly lower than initial height SDS related to bone age (SDSBA) of –0.5 (range, –1.6 to +1.2). If related to target height (Tanner), final height was found to correlate positively with the initial bone age deficit and the initial height SDSBA. Observed final height was also compared with the predicted adult height by the methods of Bayley-Pinneau (BP), Tanner-Whitehouse Mark II (TW II) and Roche-Wainer-Thissen. Regression equations between all three prediction methods and final height showed an excellent correlation (P 〈 0.0001). However, only by the BP method was predicted height very close to and no different from measured final height (paired t-test). Despite this, final height in 16 of 49 patients (32.6%) differed by more than 5.0 cm from BP predicted height. An overwhelming majority of the patients (88.6%) expressed complete or reasonable satisfaction with their adult height. Conclusion In our sample of male patients with CGD, adult height came close to but did not quite reach mean target height. The BP prediction method offers a good compromise between simplicity and accuracy but must be used judiciously because individual discrepancies with attained final height may be large and unexplained.
    Type of Medium: Electronic Resource
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