ESPE2022 Poster Category 1 Growth and Syndromes (85 abstracts)
Silver-Russell syndrome (SRS) is a rare heterogeneous syndrome associated with severe prenatal and postnatal growth retardation.
Context: There is little information on puberty onset and bone age trend in children with SRS.
Study Design and partecipants: Retrospective observational study, including patients with a confirmed diagnosis of SRS divided in 2 molecular groups [ 11p15 loss of methylation, (11p15 LOM) and maternal uniparental disomy of chromosome 7 (mUPD7)] and small for gestational age (SGA) subjects recruited at the Pediatric Endocrine Unit, Istituto Giannina Gaslini, University of Genova (Genova, Italy), between November 2014 and October 2021. 23 SRS patients (10 11p15LOM; 13 mUPD7; 12 males; 11 females- mean age 11.3± 3.9 years), and 21 SGA subjects (14 males; 7 females - mean age 14.2 ± 1.9 years).
Outcomes: Clinical (thelarche-Tanner B2 in females; testis volume ≥ 4 ml- Tanner G2 in males) and biochemical puberty onset [ Luteinizing hormone (LH), 17-bestradiol, testosterone]; PH2; bone age evolution evaluated from the age of 5 to the age of 11 years according to Greulich and Pyle; Body mass index (BMI) trend evaluated at different ages (from the age of 5 to 9 years) and at the age of puberty onset.
Results: Pubertal onset and pubarche occurred significantly earlier in SRS group than in SGA group (P 0.03 and P 0.001, respectively). LH, 17-bestradiol, testosterone were detected earlier in SRS than in SGA (P 0.01; P 0.0001). Within the SRS group, clinical signs of puberty onset occurred earlier in mUPD7 than in 11p15LOM group (P 0.003). 4 SRS children (2 females and 2 males, 3 mUPD7 and 1 11p15LOM) experienced central precocious puberty and were treated with gonadotropin-releasing hormone analogs. Early bone age delay in SRS children was followed by rapid advancement; the delta between bone age and chronological age in SRS group became significantly higher than in SGA group at the age of 9-11 years (P 0.007). Patients with 11p15LOM were underweight at the age of 5 years with a progressive normalization of BMI with the age and a BMI significantly higher than mUPD7 group (P 0.04) and SGA group (P 0.03) at the age of puberty onset.
Conclusion: Puberty onset occurred earlier in SRS than in SGA. Within the SRS group, clinical signs of puberty onset occurred earlier in mUPD7 than in 11p15LOM group.
15 Sep 2022 - 17 Sep 2022