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Master Thesis

Syndrome de McCune-Albright : présentation clinique et évolution à l’âge pédiatrique

Abstract : Background: McCune-Albright syndrome (MAS) is a rare sporadic disease with three characteristic features, peripheral precocious puberty (PPP), fibrous dysplasia (FD) and café-au-lait spots (CS), associated with other hyperfunctioning endocrinopathies. The broad spectrum of manifestations occurring alone or in combination throughout life reflects the mosaic distribution of GNAS-activating somatic mutations in various tissues. Little is known about the course of disease in childhood. Objective: to describe initial presentation and progression in children with MAS. Methods: the medical records of children (35 girls, 9 boys) with MAS diagnosed at two pediatric endocrinology centers in the last three decades were retrospectively reviewed. Results: at initial evaluation, girls (median age 4.5 [2.0 – 6.2] years) were younger than boys (9.7 [7.8 – 12.7] years), because all the girls presented with clinical signs of PPP (thelarche n=35, vaginal bleeding n=31) from the median age of 2.5 (1.0-5.6) years. In contrast all boys presented with association of FD and CS, and eventually 1 or 2 other signs. At the end of follow-up, with a median duration of 8.3 (4.7 – 10.5) years, half of the patients had developed at least 1 more impairment. Thus 18% of the cohort presented only one sign (PPP), 52% presented 2 or 3 signs, 27% presented 4 or 5, and 1 girl (3%) cumulated 7 impairments. In total, CS were present in 80% of the cohort, FD in 66% of the cohort, whose 41% with renal phosphate wasting, hyperthyroidism, hypercorticism and growth hormone excess affected each 11 to 14% of the cohort. Conclusion: PPP is more frequent in girls than boys and allows early detection of MAS. An extended follow-up of this population should be necessary in order to better describe, by prospective way, the disease scalability and to improve its management.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-03144247
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Submitted on : Wednesday, February 17, 2021 - 2:30:53 PM
Last modification on : Thursday, September 2, 2021 - 3:09:13 AM

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  • HAL Id : dumas-03144247, version 1

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Danaé Dudognon. Syndrome de McCune-Albright : présentation clinique et évolution à l’âge pédiatrique. Médecine humaine et pathologie. 2019. ⟨dumas-03144247⟩

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