Endocrine Abstracts

JOINT2490

Introduction: The SHOX gene (Short stature HOmeoboX-containing gene) regulates height growth. It is located in the pseudoautosomal region of the short arms of the X and Y sex chromosomes and encodes a transcription factor called SHOX protein. Haploinsufficiency of the SHOX gene is responsible for the etiology of many diseases such as idiopathic short stature, Turner Syndrome, and Leri-Weil dyschondrosteosis. We present a rare case of Leri-Weil dyschondrosteosis diagnosed at an early age due to a mutation in the SHOX gene in a patient presenting with disproportionate short stature.

Case Presentation: A five-month-old male infant presented with disproportion in the arms and legs and short stature. He was born at 38 weeks gestation, weighing 3700 grams, to a 36-year-old mother in her second pregnancy (second live birth). There was no significant past medical or family history. On physical examination, his weight was 5250 grams (-2.61 SDS), height was 57.3 cm (-3.48 SDS), and head circumference was 38.5 cm (3.43 SDS). His mother’s height was 155 cm, his father’s height was 176 cm, and his target height was 172 cm(-0.19 SDS). His forearm length was 9 cm, and his upper arm length was 10 cm and had mesomelic shortening. No mutation was detected in the DNA sequence analysis that would explain his short stature. Cytogenetic analysis (karyotype) of the patient revealed a deletion of the SHOX gene on the Y chromosome. The patient’s cytogenetic analysis was reported as mos46XY, del(Y)(p11.3)del(Y)(q11.2), t(14;16)(p11.2q11.2)(15)/45,X, t(14;16 p11.2;q11.2)(15). Cytogenetic analyses of both parents were performed. The mother’s genetic analysis was reported as 46 XX, t(14:16)(p11.2;q11.2), indicating that she was a carrier of the translocation. Based on these genetic findings, the patient was diagnosed with Leri-Weil dyschondrosteosis. At 1 year and 2 months old, the patient’s weight was 6.7 kg (-4.76 sds), height was 64 cm (-5.51 SDS). Growth hormone therapy was initiated. At 1 year 8 months of age the patient’s weight was 7.5 kg (-4.58 sds), height was 70 cm (-4.39 SDS) by using growth hormone therapy 2 months.

Conclusion: Leri-Weil Dyschondrosteosis is a skeletal dysplasia characterized by mesomelic shortening. It should be considered in the differential diagnosis of patients presenting with disproportionate short stature. Early determination of the etiology of short stature and initiation of growth hormone therapy may lead to gains in final adult height.