Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Störungen der Regulation des Wachstums

In dieser Gruppe werden Erkrankungen zusammengefasst die auf einer Gestörten Wachstumshormonwirkung beruhen. Dabei können Störungen auf den verschiedensten Ebenen der Wachstumshormon-Signalkaskade liegen. Vom Releasing Hormon über das Wachstumshormon bis hin zum Somatomedin C (IGF1) genannten Zytokin. In jedem dieser Signalschritte kann wiederum sowohl das Hormon als auch der Rezeptor betroffen sein.

Pathogenese

Labortest

Für alle Laborteste gilt das Störungen innerhalb der Wachstumshormon-Signalkaskade meist zu einer Erhöhung der Hormonwerte stromauf und einer Erniedrigung strommab führen.

ParameterInterpretation
GHRHErniedrigt bei Störungen in Hypothalamus
GHErniedrigt bei Störungen in der Hypophyse
IGF1Erniedrigt bei Störungen in GH-Signalverarbeitung in peripheren Zellen
TSH,LH,ACTH,FSHErniedrigt bei Störungen der gesamten Hypophyse

Gliederung

Erbliche endokrinologische Erkrankungen
Autoimmune Polyendokrinopathie
Erkrankungen der Nebenschilddrüse
Hereditärer Diabetes insipidus
Nierenerkrankungen mit endokrinologischer Manifestation
Phäochromozytom
Störungen der Regulation des Wachstums
Kleinwuchs, SHOX-bedingt
Dyschondrosteosis Leri-Weill
SHOX
Langer-Mesomelie
SHOX
X-chromosomaler familiärer Kleinwuchs
SHOX
Y-chromosomaler familiärer Kleinwuchs
SHOX
Kombinierter Hypophysenhormon-Mangel
Hyophysenhormonmangel Typ 1
POU1F1
Hyophysenhormonmangel Typ 2
PROP1
Hyophysenhormonmangel Typ 3
LHX3
Hyophysenhormonmangel Typ 4
LHX4
Hyophysenhormonmangel Typ 5
HESX1
Syndromale Wachstumsstörung
Kleinwuchs mit Entwicklungsverzögerung und angeborenen Herzfehlern
TKT
Wachstums- und Entwicklungsverzögerung mit Gesichtsdysmorphien
FTO
Wachstumshormon-Mangel
GH1
Isolierter dominanter Wachstumshormonmangel
GH1
Isolierter rezessiver Wachstumshormonmangel Typ 1A
GH1
Isolierter rezessiver Wachstumshormonmangel Typ 1B
GH1
GHRH
GHRHR
Isolierter x-chromosomaler Wachstumshormonmangel
BTK
Kowarski-Syndrom
GH1
Wachstumshormon-Sekretagogum-Resistenz
GHSR
Wachstumshormon-Unempfindlichkeit
Insulinähnlicher Wachtumsfaktor 1 Mangel
IGF1
Insulinähnlicher Wachtumsfaktor 1 Resistenz
IGF1R
Insulinähnlicher Wachtumsfaktor 1-Transportproteinmangel
IGFALS
Laron-Syndrom
GHR
Wachstumshormoninsensitivität mit Immundefizit
STAT5B
Wachstumshormon-Überempfindlichkeit
GHR
Störungen des Schilddrüsenhormonsystems
Störungen des Steroidhormonsystems

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