ESPE2023 Poster Category 1 Growth and Syndromes (75 abstracts)
Significant height response to growth hormone treatment in subjects with Wiedemann Steinert syndrome.
Emma Le Potier 1 , Aurélie Donzeau 1 , Stephanie Rouleau 1 , Natacha Bouhours-Nouet 1 , Lucie Levaillant 1 , Marie Peborde 2 , Audrey Poisson 3 , Mailys Alcina 4 & Regis Coutant 1
1CHU Angers, Angers, France. 2CHU Rouen, Rouen, France. 3CHU Rennes, Rennes, France. 4CHU Réunion, Saint-Pierre, France
Background: Wiedemann Steinert Syndrome (WSS) is characterized by distinctive facial features (hypertelorism, thick eyebrows, long philtrum, broad nasal bridge), growth retardation, and intellectual disability of varying degrees. Affected individuals are often born small for their gestational age and have generalized hypertrichosis. Some have growth hormone deficiency, usually partial with normal pituitary MRI. The disease is caused by autosomal dominant variations in the KMT2A gene. The prevalence is estimated at 1/25,000 - 40,000 but may be underestimated. Differential diagnoses include Cornelia de Lange syndrome, Coffin-Siris Syndrome, Kabuki syndrome… The height response to growth hormone treatment in this syndromic cause of short stature is unknown.
Objectives: We report the height response to growth hormone treatment in 6 subjects with molecularly proven WSS.
Results:
| Values are median (Lower limit; upper limit) | WSS |
| Birth height (SDS) | -1.5 (-2.5; -1) |
| Birth weight (SDS) | -0,5 (-2; 1) |
| Target height (SDS) | -0,5 (-2; 1) |
| Gestational age (WA) | 36 (30; 40) |
| Gender (M/F) | F |
| GH peak to insulin induced hypoglycemia (µg/L) | 14,1 (1,5; 105) |
| IGF-1 (ng/mL) | 34,5 (4; 424) |
| Indication for GH treatment | SGA, GHD |
| Mean GH dose (µg/kg/d) | 60 (60; 75) |
| Age at GH treatment (yr) | 2,5 (1,5; 13,3) |
| Height at GH treatment onset (SDS) | -3,8 (-6,5; -2,5) |
| Height at 1 yr (SDS) | -2 (-5,5; -1) |
| Height at 2 yrs (SDS) | -0,85 (-5; -0,5) |
| Mean TT duration (yrs) | 6 (1,5; 13) |
| Height at last measurement (SDS) | -1,8 (-2,2; -0,5) |
| Adult height if available (n) | 152 (147; 160) |
| Adult height if available (SDS) | -1,8 (-2,8; -0,5) |
Conclusion: WSS subjects showed a remarkable response to growth hormone which is unusual in both idiopathic GHD and SGA subjects (total height gain from the literature + 1.3 SDS), and close to what is seen in deep organic GHD. We believe that a trial of GH treatment can be offered to affected subjects.
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