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Ullrich-Turner-Syndrom und Noonan-Syndrom

Ullrich-Turner syndrome and Noonan syndrome

  • Leitthema: Großwuchs/Kleinwuchs
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Monatsschrift Kinderheilkunde Aims and scope Submit manuscript

Zusammenfassung

Patienten mit Ullrich-Turner-Syndrom (UTS) ähneln phänotypisch Patienten mit Noonan-Syndrom (NS), andererseits gibt es auch große Unterschiede. Die Inzidenz des UTS liegt bei 1:2000–2500 weiblichen Neugeborenen, die des NS bei 1:1000–2500 Lebendgeburten. Patienten mit einem UTS sind weiblich, haben eine Gonadendysgenesie, einen Kleinwuchs, Dysmorphiezeichen sowie einen Defekt im Bereich der Geschlechtschromosomen. Hauptprobleme beim UTS sind der Kleinwuchs und der Hypogonadismus. Die Endgröße unbehandelter Patienten liegt etwa 20 cm unterhalb der gesunder Frauen. Eine frühzeitige Behandlung mit Wachstumshormon (GH) kann die Erwachsenengröße stark verbessern. Nur wenige Patienten kommen spontan in die Pubertät. Jungen und Mädchen mit NS haben Dysmorphien, einen Kleinwuchs und einen Herzfehler bei normalen Geschlechtschromosomen. Hauptprobleme sind Herzfehlbildungen und Kleinwuchs. Eine GH-Behandlung verbessert das Wachstum, ob auch die Endgröße, ist noch unklar. Eine GH-Therapie für das NS ist noch nicht zugelassen.

Abstract

Some of the phenotypic features of Noonan syndrome (NS) resemble those of Ullrich-Turner syndrome (UTS), but on the other hand there are striking differences between these two syndromes. The incidence of UTS is 1:2000–2500 in liveborn females, the incidence of NS is 1:1000–2500 live births. Patients with UTS are females and have gonadal dysgenesis, short stature, characteristic physical features, and a complete or partial X monosomy in some or all cells. Short stature and hypogonadism are the main problems in this syndrome. Mean final height in UTS is 20 cm below normal female adult height. Growth hormone (GH) treatment can increase adult height markedly if started early. Only some girls with UTS undergo spontaneous pubertal development. Boys and girls with NS have distinctive dysmorphic features, short stature, and congenital heart defects, while the karyotype is normal. The main problems are congenital heart disease and short stature. Patients with NS seem to benefit from GH treatment, but so far it is unclear whether adult height is increased, too. GH treatment for short stature in NS is not yet officially approved.

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  1. Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf

    N. Stahnke

  2. Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg

    N. Stahnke

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Stahnke, N. Ullrich-Turner-Syndrom und Noonan-Syndrom. Monatsschr Kinderheilkd 152, 517–527 (2004). https://doi.org/10.1007/s00112-004-0943-y

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  • DOI: https://doi.org/10.1007/s00112-004-0943-y

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