Growth hormone receptor deficiency (Laron syndrome)

clinical and genetic characteristics.

J. Guevara-Aguirre, A. L. Rosenbloom, M. A. Vaccarello, P. J. Fielder, A. de la Vega, F. B. Diamond, Ronald (Ron) Rosenfeld

Research output: Contribution to journalArticle

36 Citations (Scopus)

Abstract

Approximately 60 cases of GHRD (Laron syndrome) were reported before 1990 and half of these were from Israel. We have described 47 additional patients from an inbred population of South Ecuador and have emphasized certain clinical features including: markedly advanced osseous maturation for height age; normal body proportions in childhood but child-like proportions in adults; much greater deviation of stature than head size, giving an appearance of large cranium and small facies; underweight in childhood despite the appearance of obesity and true obesity in adulthood; blue scleras; and limited elbow extension. The Ecuadorean patients differed markedly and most importantly from the other large concentration, in Israel, by being of normal or superior intelligence, suggesting a unique linkage in the Ecuadorean population. The Ecuadorean population also differed in that those patients coming from Loja province had a markedly skewed sex ratio (19 females: 2 males), while those from El Oro province had a normal sex distribution (14 females: 12 males). The phenotypic similarity between the El Oro and Loja patients indicates that this abnormal sex distribution is not a direct result of the GHRD.

Original languageEnglish (US)
Pages (from-to)96-103
Number of pages8
JournalActa Paediatrica Scandinavica, Supplement
Volume377
StatePublished - 1991
Externally publishedYes

Fingerprint

Laron Syndrome
Sex Distribution
Israel
Obesity
Population
Ecuador
Sclera
Thinness
Normal Distribution
Sex Ratio
Elbow
Intelligence
Skull
Head

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Guevara-Aguirre, J., Rosenbloom, A. L., Vaccarello, M. A., Fielder, P. J., de la Vega, A., Diamond, F. B., & Rosenfeld, R. R. (1991). Growth hormone receptor deficiency (Laron syndrome): clinical and genetic characteristics. Acta Paediatrica Scandinavica, Supplement, 377, 96-103.

Growth hormone receptor deficiency (Laron syndrome) : clinical and genetic characteristics. / Guevara-Aguirre, J.; Rosenbloom, A. L.; Vaccarello, M. A.; Fielder, P. J.; de la Vega, A.; Diamond, F. B.; Rosenfeld, Ronald (Ron).

In: Acta Paediatrica Scandinavica, Supplement, Vol. 377, 1991, p. 96-103.

Research output: Contribution to journalArticle

Guevara-Aguirre, J, Rosenbloom, AL, Vaccarello, MA, Fielder, PJ, de la Vega, A, Diamond, FB & Rosenfeld, RR 1991, 'Growth hormone receptor deficiency (Laron syndrome): clinical and genetic characteristics.', Acta Paediatrica Scandinavica, Supplement, vol. 377, pp. 96-103.
Guevara-Aguirre J, Rosenbloom AL, Vaccarello MA, Fielder PJ, de la Vega A, Diamond FB et al. Growth hormone receptor deficiency (Laron syndrome): clinical and genetic characteristics. Acta Paediatrica Scandinavica, Supplement. 1991;377:96-103.
Guevara-Aguirre, J. ; Rosenbloom, A. L. ; Vaccarello, M. A. ; Fielder, P. J. ; de la Vega, A. ; Diamond, F. B. ; Rosenfeld, Ronald (Ron). / Growth hormone receptor deficiency (Laron syndrome) : clinical and genetic characteristics. In: Acta Paediatrica Scandinavica, Supplement. 1991 ; Vol. 377. pp. 96-103.
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