ESPE2019 Poster Category 3 Growth and Syndromes (to include Turner Syndrome) (28 abstracts)
Three Cases with Familial Short Stature: Leri-Weill Syndrome
İlkay Ayranci 1 , Gönül Çatli 2 , Berna Eroğlu Filibeli 1 , Hayrullah Manyas 1 , Yaşar Bekir Kutbay 3 , Altug Koç 3 & Bumin Nuri Dündar 2
1Health Sciences University İzmir Tepecik Training and Research Hospital, Pediatric Endocrinology Clinic, İzmir, Turkey. 2İzmir Kâtip Çelebi University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey. 3Health Sciences University İzmir Tepecik Training and Research Hospital, Genetic Diseases Diagnostic Center, İzmir, Turkey
Introduction Objective: The SHOX gene is located in pseudoautosomal region of chromosomes of Xp22.33 and Yp11.32. It plays role in proliferation and differentiation of epiphyseal chondrocyte. Leri-Weill syndrome is observed with loss of an allele, while missense mutations lead to idiopathic short stature without any dysmorphic findings. This report presents clinical features of three cases diagnosed with Leri-Weill syndrome, and their responses to rhGH treatment
Cases: Clinical and laboratory features of three cases diagnosed with Leri-Weill syndrome are summarized in Table 1 Routine examinations regarding short stature of patients were evaluated as normal.
Result: Most cases of SHOX haploinsufficiency are considered to be idiopathic or familial short stature due to the poor clinical findings. SHOX deficiency should be investigated especially in the presence of findings such as shortness of limb and madelung deformity. rHGH treatment is a safe and effective option for improving final height in children with SHOX deficiency.
| CASE-1 | CASE-2 | CASE-3 | |
| Age | 6,2 | 3,6 | 1,6 |
| Sex | Male | Male | Female |
| Complaints | Short stature | Short stature | Short stature |
| Background | No Characteristics | Asthma | No Characteristics |
| Similar cases in the family | Mother's height: 143 cm Father's height: 165 cm Target height: 160,5 cm (-2,2 SDS) | Mother's height: 150,8 cm Father's height: 151,6 cm Target height: 157,7 cm (-2,5 SDS) SHOX deletion in father | Mother's height: 150,8 cm Father's height: 151,6 cm Target height: 144,7 cm (-2,8 SDS) SHOX deletion in father and brother |
| Height (SDS) | 101 cm (-3,4) | 89,3 cm (-2.85) | 75 cm (-2,4) |
| Weight (SDS) | 16.4 kg (-2.02) | 16 kg (-0,03) | 9.3 kg (-1,33) |
| BMI SDS | 0.4 | 2.7 | 0.01 |
| Average Height/Height (Percentile) Mesomelia Madelung deformity | 0.59 (>95 p) None Yes | 0.61 (>95 p) None Yes | 0.58 (>95 p) None None |
| Laboratory-observation Bone Age (SDS) IGF-1 (ug/L) Pre-treatment Annual Growth Velocity (GV) Peak GH response (ng/ml) rhGH dose rhBH period Post-treatment Annual Growth Velocity (GV) | 4 years 6 months (-2,08) 198 (22-208) 4.4 cm/year 6.33 50 mcg/kg/day 2 years 10 months 9,19 cm/year | 2 years (-2,3) 79.4 (<15-129) 4.68 cm/year 8.7 25 mcg/kg/g 3 years 5 months 10.9 cm/year | 14 months (-1,2) 83.9 (18.2-172) 4,96 cm/year 5.69 35 mcg/kg/day 11 months 9.9 cm/year |
| Genetic Conclusion | Deletion of 266 Kb with 2 OMIMs in Xp22.33 region. | SHOX deletion at locus Yp11.3 | CNV gain with 15 OMIM genes of 1.4MB on the X chromosome. |
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