Pubertal Progression in Female Adolescents with Progeria

Study objective: This study identified the prevalence of menarche and coincident sexual characteristics in female adolescents with Hutchinson-Gilford Progeria Syndrome (HGPS).

Design: Data were examined to determine the prevalence of menarche in female adolescents older than 12 years; all were participants in clinical trials between 2007 and 2016.

Setting: Pediatric hospital in Boston, Massachusetts.

Participants: Fifteen female adolescents, median age 15 (range, 12.0-20.3) years with a confirmed diagnosis of HGPS.

Interventions and main outcome measures: Report of menarche, anthropometric and serum hormonal measures, Tanner pubertal staging, and body composition using dual-energy x-ray absorptiometry.

Results: Nine of 15 (60%) participants reported spontaneous menarche at a median age of 14.4 years (range, 12.0-16.5 years). In those experiencing menarche vs not, median age was older (16.5 vs 13.6 years; P = .02), whereas body mass index did not differ (10.5 vs 10.4; P = .53) nor percentage body fat (19.4% vs. 19.3%; P = .98) or serum leptin levels (0.40 vs 0.40 ng/mL; P = .23). Among those who achieved menarche, 2 of 9 (22%) had Tanner II breast development and 2 of 9 (22%) exhibited Tanner II Pubic hair, all reflecting minimal pubertal development. Only early signs of puberty were similarly seen in the non-menstruating group, including 1 of 6 (17%) with Tanner II breasts and 2 of 6 (33%) with Tanner II pubic hair, and Tanner staging did not differ between those who reported menarche vs those who did not (each P = 1.0). None of the participants achieved Tanner IV or V thelarche over the course of the study.

Conclusion: Menarche was achieved in more than half of adolescent girls with HGPS, in the setting of little to no physical signs of pubertal development and minimal body fat.