Elsevier

Metabolism

Volume 47, Issue 11, November 1998, Pages 1337-1343
Metabolism

Recessive Robinow syndrome: With emphasis on endocrine functions

https://doi.org/10.1016/S0026-0495(98)90301-8Get rights and content

Abstract

We present the characteristic features of 14 children with the recessive form of Robinow syndrome and the growth hormone (GH) response to provocation with clonidine and the serum insulin-like growth factor-I (IGF-I) concentration in 12 of these children. The gonadotropin (luteinizing hormone [LH] and follicle-stimulating hormone [FSH]) response to gonadotropin-releasing hormone (GnRH) was evaluated in early pubertal and pubertal patients, and the testosterone response to human chorionic gonadotropin (HCG) was evaluated in males. Children with Robinow syndrome, born at full-term, were short at birth (length, 41.4 ± 2.1 cm) and had markedly slow growth velocity (GV) during the first year (13.1 ± 2.1 cm/yr); consequently, they were significantly short at the end of the first year of life (length, 54.4 ± 2.9 cm). This intrauterine and early extrauterine growth delay reflected low growth potential. During childhood, the GV standard deviation score (GVSDS) remained low (− 2.17 ± 0.83). Despite the presence of empty sella in all of the patients, they had an adequate GH response to clonidine provocation (peak, 19.3 ± 5.8 μg/L) and a normal serum IGF-I concentration (309 ± 142 ng/mL) for their age. During childhood and early adolescence, boys with Robinow syndrome had low basal testosterone and a low testosterone response to HCG stimulation (3,000 IU/m2/d intramuscularly [IM] for 3 days). However, their basal and GnRH-stimulated FSH concentrations were normal. Two girls (Tanner II breast development) had a normal serum estradiol (E2) concentration but high LH and FSH responses to GnRH stimulation. This suggested either defective feedback of E2 on the hypothalamic-pituitary axis or hyporesponsiveness of the ovaries to gonadotropin. Four weeks of HCG therapy (2,500 IU/m2 IM twice weekly) in three boys with Robinow syndrome increased the penile length and testicular volume, denoting a significant Leydig cell response to prolonged HCG stimulation and the presence of functioning androgen receptors. It is suggested that HCG and/or testosterone therapy during infancy may improve the severe micropenis in these patients.

References (23)

  • CGD Brook et al.

    The somatotropic axis in puberty

    Endocrinol Clin North Am

    (1992)
  • RS Wadia

    Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome)—A new genetic entity?

    J Med Genet

    (1978)
  • RS Wadia

    Covesdem syndrome

    J Med Genet

    (1979)
  • WB Wadlington et al.

    Mesomelic dwarfism with hemivertebrae and small genetalia (the Robinow syndrome)

    Am J Dis Child

    (1973)
  • MD Bain et al.

    Robinow syndrome without mesomelic brachymelia: A report of five cases

    J Med Genet

    (1986)
  • D Glaser et al.

    Robinow syndrome with parental consanguinity

    Eur J Pediatr

    (1989)
  • AS Teebi

    Autosomal recessive Robinow syndrome

    Am J Med Genet

    (1990)
  • H Nazer et al.

    Concurrence of Robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins

    Am J Med Genet

    (1990)
  • JM Vera-Roman

    Robinow dwarfism syndrome accompanied by penile agenesis and hemivertebrae

    Am J Dis Child

    (1973)
  • PA Lee et al.

    Robinow's syndrome: partial primary hypogonadism in pubertal boys, with persistence of micropenis

    Am J Dis Child

    (1982)
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