ESPE Abstracts (2019) 92 P3-159

Three Cases with Familial Short Stature: Leri-Weill Syndrome

İlkay Ayranci1, Gönül Çatli2, Berna Eroğlu Filibeli1, Hayrullah Manyas1, Yaşar Bekir Kutbay3, Altug Koç3, Bumin Nuri Dündar2


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.

Table 1.
CASE-1CASE-2CASE-3
Age6,23,61,6
SexMaleMaleFemale
ComplaintsShort statureShort statureShort stature
BackgroundNo CharacteristicsAsthmaNo Characteristics
Similar cases in the familyMother'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 SDS0.42.70.01
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 ConclusionDeletion of 266 Kb with 2 OMIMs in Xp22.33 region.SHOX deletion at locus Yp11.3CNV gain with 15 OMIM genes of 1.4MB on the X chromosome.

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