ESPE Abstracts

Introduction: The tricho-rhino-phalangeal syndrome type 1 (TRPS 1), also known as Langer-Giedion syndrome, is an uncommon genetic disorder. This disease is characterized by short stature, cone-shaped ends of the long bones (epiphyses), and distinctive facial features linked to skeletal abnormalities since early childhood. The experience with recombinant growth hormone (rGH) therapy in TRPS 1 is relatively poor. The aim of the study is to present the results of rGH therapy in a 14-year-old boy with TRPS1, coexisting with growth hormone deficiency and osteoporosis.

Patient report: The patient was born at 37th Hbd, with a birth weight 2890g. Target height based on parental height was 174 cm. He presented delayed motor development in the first months of life. Since the age of 2y, the height was classified below the 3rd centile. At the age of 4y, because of distinctive facial dysmorphia such as round face, hypertelorism, wide eyebrows, bulbous nose, long philtrum, thin upper lip, low-set posteriorly rotated ears, hypertrichosis, and short stature TRPS 1 was suspected. Molecular testing revealed a submicroscopic deletion localized on the long arm of chromosome 8 (region 8q23.1-q23.3), which involved the TRPS1 gene, confirming the diagnosis. Due to short stature and deceleration of growth velocity at the age of 3y, GH secretion testing was performed. After clonidine and arginine stimulation, the peak GH level was 5.7 ng/ml and 2.1 ng/ml, respectively. GH deficiency was diagnosed. IGF-1 level was also below the normal range for age and sex (32 ng/ml). MRI of the pituitary was normal. rGH treatment was started at the age of 5.5 y when his height was 101 cm (htSDS = -3). At the age of 6y, he had a fracture of the clavicle and elbow bone. Low mineral density was observed in densitometry (Z-score of lumbar region -2.3). Vitamin D3 and oral calcium supplementations were initiated. Currently, at the age of 14y, his height reached 155.5 cm (htSDS = -1.4), and the predicted adult height (PAH) is 180 cm. The current pubertal stage is as follows: A3, P3, and testicular volume 15 ml. No side effects of rGH treatment were observed to date.

Conclusions: Almost nine-year observation of rGH therapy confirms its efficacy in TRPS 1. Moreover, initiation of rGH therapy early in life resulted in increased growth velocity, gives a satisfactory prognosis for PAH in further treatment.