ESPE Abstracts

Entrance: HOXA gene deletions cause an appearance characterized by short stature, mild developmental delay, characteristic face, small hands and feet, short and large thumbs, and urogenital malformations. Clinical signs may vary according to the content of the deletion region.

Case: The case applied to our clinic with the complaint of short stature. It was learned that the patient was born at term 2500 gr and had bilateral undescended testis operation when he was 1 year old. Examination at 8 years 10 months showed a height of 116.7 cm (-2.57 SD) and a weight of 24 kg (–0.86 SD). Target height: 171.5 cm (-0,54 SD). Testicular volumes were pubertal. The case had mild neurodevelopmental retardation. He had a flattened nasal root, hypertelorism, prominent auricle, small hands and feet. He had proximal thumb on both hands, clinodactyly in the 5th fingers, shortness in the 5th metacarpals, and hypoplasia in the bilateral hypothenar region. There was short, broad thumb and fingernail hypoplasia on the feet. Pituitary MRI was normal. Cranial MRI was reported as “a 16x15 mm arachnoid cyst located at the cerebellar medullar corner on the right”. In bone survey; There was arcus fusion defect in S1 vertebra, bowing in bilateral radius, and bilateral coxa valga appearance. In the LHRH test, the LH peak was 12.8 IU/l pubertal. In growth hormone (GH) stimulation tests, the peak response to clonidine was 6.3 ng/ml, and the peak response to L dopa was 3.4 ng/ml. Growth hormone deficiency and precocious puberty were detected in the case. GH and GnRHa treatments were started. In the follow-up of the case, it was observed that it lengthened by 8.1 cm/year with GH and GnRHa treatment.

Conclusion: In this case, a 2.9 megabase deletion containing the entire HOXA gene cluster was reported in the 7p15.2-p15.1 region. This is the first case in which arachnoid cyst, precocious puberty and GH deficiency have been described in addition to short stature and bone deformities found in HOXA gene deletions. This is the first case in which GH and GnRHa treatments were given from HOXA gene deletion cases and height gain was achieved with these treatments. This case contributes to the genotype-phenotype correlation of HOXA gene deletions.