Angeborene Hypothyreose

Zusammenfassung

Die angeborene Hypothyreose ist mit einer Inzidenz von 1:3000–4000 Neugeborenen die häufigste angeborene endokrine Erkrankung. Die häufigsten Ursachen einer permanenten Hypothyreose sind Schilddrüsenentwicklungsstörungen und Schilddrüsenhormonsynthesedefekte. Seltener liegt eine zentrale Hypothyreose vor. Ursachen einer transienten Hypothyreose sind ein akuter Jodexzess, ein chronischer Jodmangel, mütterliche Schilddrüsenantikörper oder Thyreostatika. Bei einem TSH-Wert >15 mU/l im Neugeborenenscreening wird die Verdachtsdiagnose einer primären angeborenen Hypothyreose gestellt. Die Diagnose gilt als gesichert, wenn der TSH-Wert in der Konfirmationsdiagnostik oberhalb und der T4/fT4-Wert unterhalb des altersspezifischen Referenzbereichs liegen. Die diagnostische Abklärung umfasst eine ausführliche Anamnese, eingehende klinische Untersuchung, die Sonografie der Schilddrüse und ggf. die Bestimmung von Thyreoglobulin, Schilddrüsenantikörpern und Jodausscheidung sowie die genetische Diagnostik. Die Behandlung mit L-Thyroxin sollte so früh wie möglich in einer Dosierung von 10–15 µg/kg KG/Tag erfolgen. Nach Therapiebeginn müssen regelmäßige Therapiekontrollen durchgeführt werden, die neben der körperlichen Untersuchung die Bestimmung von TSH und T4/fT4 umfassen. Alle Kinder sollten im Verlauf regelmäßige audiologische Kontrollen und Entwicklungs- bzw. Intelligenztests erhalten. Durch eine frühzeitige Diagnostik und adäquate Therapie wird eine normale Entwicklung der Kinder ermöglicht.

Summary

With an incidence of 1:3000–4000 congenital hypothyroidism is the most common congenital endocrine disease. The most prevalent causes of permanent congenital hypothyroidism are thyroid dysgenesis and defects of thyroid hormone synthesis. Central hypothyroidism is less common. Causes of transient hypothyroidism are acute iodine excess, chronic iodine deficiency, maternal thyroid antibodies, or anti-thyroid drugs. Primary congenital hypothyroidism is suspected if the TSH level is >15 mU/l at newborn screening. The diagnosis is confirmed if the TSH level is above and the T4/fT4 level below the age-specific reference range at the confirmatory laboratory test. The diagnostic work-up includes a detailed medical history, an extensive clinical examination, thyroid ultrasound and potentially the determination of thyroglobulin, thyroid antibodies, and iodine excretion, as well as genetic diagnostics. Affected children should be treated with levothyroxine as early as possible at a dose of 10 to 15 µg/kg/day. Afterwards, regular follow-up investigations need to be conducted that include the clinical examination and determination of TSH and T4/fT4 levels. In the course of the treatment, all children should be subjected to regular hearing tests as well as development and intelligence tests. An early diagnosis and adequate therapy allow children to develop normally.

Schlüsselwörter

Angeborene Hypothyreose - konnatale Hypothyreose - kongenitale Hypothyreose - Neugeborenenscreening

Keywords

Congenital hypothyroidism - newborn screening

• Literatur

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