ESPE Abstracts (2016) 86 P-P1-817

ESPE2016 Poster Presentations Syndromes: Mechanisms and Management P1 (36 abstracts)

Silver-Russell Syndrome with 11p15 Epimutation: Clinical Analysis of Adrenarche, Central Puberty and Body Mass Index in a Cohort of French Children

Ana Canton , Frédéric Brioude & Irène Netchine

INSERM UMR S 938, UPMC, Armand Trousseau Hospital, Pediatric Endocrinology, Paris, Ile de France, France

Background: Silver-Russell syndrome (SRS) is characterized by intrauterine and postnatal growth retardation, a typical phenotype and feeding difficulties. It is related to 11p15 ICR1 hypomethylation in up to 50% of the cases. Some patients may exhibit signs of early puberty or premature adrenarche, including premature pubarche and/or an exaggerated adrenarche (high dehidroepyandrosterone sulfate (DHEAS) levels for chronological age). Despite early feeding difficulties, some children develop a rapid weight catch-up, probably when overfed, resulting in a marked BMI gain.

Objective: To analyse the clinical features of a group of 11p15 SRS children, regarding signs of adrenarche, signs of central puberty and anthropometric data.

Method: We analysed 16 patients 10 years or older followed at the same paediatric endocrinology unit, collecting retrospectively the following data: anthropometric data, age of pubarche, age of thelarche or testicular enlargement, DHEAS levels and baseline insulin-like growth factor 1(IGF-1) levels (without growth hormone (GH)).

Results: From the 16 patients analysed, 6 (37%; 5 boys and 1 girl) had premature pubarche, and 9 (56%; 6 boys and 3 girls) had exaggerated adrenarche. One girl presented with precocious puberty. Thirteen (81%) presented first with adrenarche signs. Baseline IGF-1 levels were ≥ 2.0 SD in 7 (44%), and between 0 and 2.0 SD in 6 (37%). All patients (100%) had a marked BMI increase 1 to 2 years before puberty and/or adrenarche onset (BMI increase of at least +1.0 SD). Final height was available for 6: 3 did not catch-up to a height > −2.0 SD and 2 did not catch-up to their target heights, regardless of GH treatment.

Conclusion: Premature and/or exaggerated adrenarche seems to be common among these patients, regardless of gender. A rapid increase in BMI may lead to premature adrenarche and early puberty, compromising thereby the final height despite GH treatment.

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