Endocrine Abstracts

Introduction: Prader–Willi (PWS) is a complex genetic syndrome characterized by dysmorphic features, hypotonia, mental retardation, behavioral abnormalities, hyperphagia with progressive obesity, and endocrine dysfunctions as hypogonadism and GH deficiency. GH treatment is recommended, the major concern being aggravation of sleep apnea.

Cases report: We present 2 cases with specific clinical features and genetically confirmed PWS (del 15 q11.2–q13), who had normal stature in spite of confirmed GH deficiency. Both cases are girls of 14 (PD), respectively 6-year-old (MF), born in non-sanguine couples, with low birth weight and important hypotonia. After the age of 1, they both presented hyperfagia with rapid and important weight gain. At 10 years of life, PD had important obesity (+10 S.D.) and a surprising height at +2 S.D. despite of low GH, insufficiently stimulated, and normal low IGF1 (138 ng/ml). Sleep apnea could not be assessed because of agitation. At the age of 14, with rigorous alimentation, her weight did not excessively increased, being at +8 S.D. She had no puberty signs, low hormones of gonadal axis, and a low height velocity, however her actual height remains higher than expected (+1 S.D). Bazal GH remained low and IGF1 at the inferior limit for the age (213 ng/ml). At the first endocrinological examination, in 2010, MF presented obesity, moderate for the disease (+3 S.D.) and, again, high normal height (+2 S.D.) despite low basal GH and low IGF1 (37.6 ng/ml). She had moderate obstructive sleep apnea. With possible sleep apnea in the first case and confirmed in the second, in front of their normal height, the decision of monitoring of height velocity without treatment was taken.

Conclusion: Short stature is common in PWS. Our patients presented unexplained high stature, despite partial GH deficiency. GH treatment remains controversial and armed expectative is probably preferable in these two cases.