Kowarski syndrome

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Classification according to ICD-10
E23.0 Hypopituitarism
ICD-10 online (WHO version 2019)

The kowarski syndrome refers to a short stature by interfering with the production of growth hormone . This leads to growth retardation and short stature .

The name refers to a description by the American pediatrician and endocrinologist Allen Avinoam Kowarski in 1978.

Synonyms are growth hormone deficiency type 1 and English Biodefective Growth Hormone; Pituitary Dwarfism with Normal Immunireactive Growth Hormone and Low Somatomedin .


The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .

root cause

The disease is based on mutations in the GH1 gene at location 17q23.3, which means that the HG molecule loses its biological activity.

Clinical manifestations

Clinical criteria are:


  • K. Chihara, Y. Takahashi, H. Kaji, K. Goji, Y. Okimura, H. Abe: Short stature caused by a natural growth hormone antagonist. In: Hormone research. Vol. 49 Suppl 1, 1998, ISSN  0301-0163 , pp. 41-45, PMID 9554469 .

Web links

Individual evidence

  1. a b c Kowarski syndrome. In: Orphanet (Rare Disease Database).
  2. AA Kowarski, J. Schneider, E. Ben-Galim, VV Weldon, WH Daughaday: Growth failure with normal serum RIA-GH and low somatomedin activity: somatomedin restoration and growth acceleration after exogenous GH. In: The Journal of Clinical Endocrinology and Metabolism . Volume 47, Number 2, August 1978, ISSN  0021-972X , pp. 461-464, doi: 10.1210 / jcem-47-2-461 , PMID 263308 .
  3. a b Kowarski syndrome.  In: Online Mendelian Inheritance in Man . (English)