ESPE Abstracts

Background: In Silver-Russell Syndrome (SRS), it is known that puberty starts early, frequency of premature adrenarche increases and adrenarche progresses aggressively. However, data regarding gonadal functions and testicular development in males during pubertal period is still insufficient.

Methods: Twenty-four cases (9F, 15M) who were followed-up with diagnosis of SRS between 1990-2020 were included in the study. The diagnosis of SRS was based on the Netchine–Harbison clinical scoring system. Age at onset of puberty, physical and gonadal characteristics at different pubertal stages were recorded.

Results: At the time of study, 6 cases were pubertal, while 8 completed puberty. The median age at onset of puberty in female and male cases were 9 (7.8-10.9) and 10.6 (9-14.9) years and relatively early, respectively. Girls reached adrenarche at a median age of 8.8 (8.2-9.9) years while boys reached at 11 (9.3-14.1) years. Congenital genital anomalies were present in 47% of boys. Prepubertal median testicular volume (with orchidometer) was 1ml (0.5-2) and testicular volume SDS was -1.8 (-3.4 and 0.2). The mean height and body mass index (BMI) SDS in prepubertal period (age; 7.2±1.7 years) was -3.1±0.9 and -2.1±1.7, respectively. At the onset of puberty (age; 10.6 ± 2 years), mean height and BMI SDS increased up to -2.2±0.9 and -1.1±1.4, respectively. Age at onset of puberty and BMI SDS were negatively correlated (r = -0.584, P = 0.028). Median testicular volume of 5 male cases who completed puberty was 11ml (9-15) and testicular volume SDS was -3.3 (-3.4 and -2.0). FSH, LH and testosterone levels were at normal pubertal levels in these patients. While bone age (median SDS -2.8; -7.2 and 1.3) was delayed in the prepubertal period, significant advancement was observed at the onset of puberty (median SDS -0.5; -4.3 and 3.1) (P = 0.003). Prepubertal gynecomastia and high estradiol/estrone levels were observed in 2 patients with early puberty. For girls, median age at menarche was 13.6 years and all periods were regular. The median final height was 155.6cm in boys and 148.5cm in girls.

Conclusion: In SRS, onset of puberty is earlier. During puberty, there is an increase in BMI and acceleration in bone maturation. In boys, testicular volume does not correlate with pituitary-gonadal hormone levels. Therefore, findings such as somatic growth, acceleration in bone maturation, gynecomastia should be evaluated rather than testicular volume to evaluate pubertal onset. Thus, it will be possible to improve the height prognosis and to plan appropriate treatment.