Kowarski syndrome

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 .

distribution

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:

Delayed growth with short stature even in newborns or toddlers

Growth hormone levels normal or slightly increased

Insulin-like growth factor-I (IGF-I) decreased

Responding well to recombinant growth hormone therapy.

literature

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

Rare Diseases Kowarski Syndromes

Individual evidence

↑ ^a ^b ^c Kowarski syndrome. In: Orphanet (Rare Disease Database).
↑ 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 .
↑ ^a ^b Kowarski syndrome. In: Online Mendelian Inheritance in Man . (English)

[Orpha-1] 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 .

[OMIM-3] Kowarski syndrome. In: Online Mendelian Inheritance in Man . (English)