Autosomal dominant cutis laxa type 3 (ADCL3) is a genetic connective tissue disorder characterized by poor pre- and postnatal growth and, rarely, by systemic impairment. The aetiology of short stature is incompletely known, some of these patients reaching normal final height. Less than 50 cases were reported in the literature. We report the case of a male patient 3.2 years old who presented for endocrinological evaluation of short stature. His medical history reveals congenital hypothyroidism treated with levothyroxine, congenital cataract, pseudophakia, hiatal hernia, micturition disorder. The patient was born small for gestation age (SGA), has facial dysmorphic features, lax, thin skin with vascular markings, severe short stature (−4.08 S.D.), body weight at the upper normal range (BMI at the 80 percentile) and decreased growth velocity (−1.76 S.D. in the last year). The patient was also under genetic evaluation. Laboratory assessment shows normal IGF1 (111 ng/ml), peek GH during two stimulation tests of 8.07 ng/ml and 2.98 ng/ml, bone age of 3 years and pituitary hypoplasia on MRI. The diagnosis of short stature due to SGA and GH deficiency was established and somatropin treatment 0.035 μg/kg body weight/day was started. After 12 months of treatment the height increased by 8.5 cm and the height SD score improved at −3.1. The treatment was well tolerated by the patient. The patient presented the results of the genetic tests which showed ADCL3. This is the first case report of ADCL3 associated with GH deficiency treated with somatropin. Evolution under treatment will be closely followed in interdisciplinary collaboration to optimize the results.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology