RECESSIVE ROBINOW-SYNDROME - WITH EMPHASIS ON ENDOCRINE FUNCTIONS

We present the characteristic features of 14 children with the recessi ve form of Robinow syndrome and the growth hormone (GH) response to pr ovocation with clonidine and the serum insulin-like growth factor-I (I GF-I) concentration in 12 of these children. The gonadotropin (luteini zing 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 chorioni c gonadotropin (HCG) was evaluated in males, Children with Robinow syn drome, 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 intraute rine and early extrauterine growth delay reflected low growth potentia l. During childhood, the GV standard deviation score (GVSDS) remained low (-2.17 +/- 0.83). Despite the presence of empty sella in all of th e patients, they had an adequate GH response to clonidine provocation (peak, 19.3 +/- 5.8 mu g/L) and a normal serum IGF-I concentration (30 9 +/- 142 ng/mL) for their age. During childhood and early adolescence , boys with Robinow syndrome had low basal testosterone and a low test osterone response to HCG stimulation (3,000 IU/m(2)/d intramuscularly [IM] for 3 days). However, their basal and GnRH-stimulated FSH concent rations were normal. Two girls (Tanner II breast development) had a no rmal 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/m(2) IM twice wee kly) in three boys with Robinow syndrome increased the penile length a nd testicular volume, denoting a significant Leydig cell response to p rolonged HCG stimulation anti the presence of functioning androgen rec eptors. It is suggested that HCG and/or testosterone therapy during in fancy may improve the severe micropenis in these patients. Copyright ( C) 1998 by W.B. Saunders Company.