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Master Thesis

Étude de la croissance staturale de la cohorte réunionnaise de patients atteints du syndrome de Larsen de La Réunion. Analyse de la réponse et tolérance au traitement par hormone de croissance

Abstract : Introduction: Larsen syndrome of Reunion Island is a rare skeletal dysplasia. Patients suffer from facial dysmorphia, articular dislocations and a severe retarded physical development. It is caused by a homozygous mutation in the ß4GALT7 gene. The growth of these patients still needs to be better understood. This study aims to analyse the physical development of Larsen syndrom patients based on the largest group possible, as well as evaluate their response and tolerance to growth hormone treatment. Method: It is an observational retrospective cohort study and monocentric on 37 patients in Reunion, from 1927 to 2020. Inclusion criteria are both clinical and genetic. Results: 37 patients were considered. The average adult size is 127.1 cm (-8 DS) +/- 10.4 (literally 114-139 [-10 to -6 DS]) and 120.6 cm (-7,5 DS) +/- 7.6 (literally 110-134.5 [-9.5 à -5 DS]) respectively, for men (n=4) and women (n=8). With hormone growth treatment, the average adult size is 137.4 cm (-6 DS) +/- 10.1 (literally 121-146 [-9 to -4,5 DS]) and 125 cm (-7 DS) +/- 14 (literally 101-135 [-11 to -5 DS]) respectively, for men (n=5) and women (n=5). From a clinical point of view, one girl had worsened scoliosis, but also progressed after stopping growth hormone treatment. From a biological point of view, two patients have developed type 2 diabetes after stopping growth hormone treatment. Conclusion: Larsen syndrome of Reunion Island patients suffer from a severe retarded physical development, that should benefit from endocrinological exploration. Growth hormone treatment may be discussed with the child and family in order to improve adult size prognosis and body composition.
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Master Thesis
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Submitted on : Tuesday, September 1, 2020 - 9:37:24 AM
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  • HAL Id : dumas-02926788, version 1

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Élodie Périer. Étude de la croissance staturale de la cohorte réunionnaise de patients atteints du syndrome de Larsen de La Réunion. Analyse de la réponse et tolérance au traitement par hormone de croissance. Sciences du Vivant [q-bio]. 2020. ⟨dumas-02926788⟩

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