Akademik Veri Yönetim Sistemi
60th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Roma, İtalya, 15 Eylül 2022, cilt.95, sa.2, ss.383
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 genotypephenotype correlation of HOXA gene deletions.