Neuropediatrics 2011; 42 - P121
DOI: 10.1055/s-0031-1274093

Growth and pubertal development of boys with x-chromosomal recessive Duchenne's muscular dystrophy (DMD)

A Gangfuß 1, B Geers 1, S Lutz 1, M Munteanu 1, K Schaaf 2, B Hauffa 2, U Schara 1
  • 1Universitätsklinikum Essen, Neuropädiatrie, Entwicklungsneurologie und Sozialpädiatrie, Klinik für Kinderheilkunde I, Essen, Germany
  • 2Universitätsklinikum Essen, Pädiatrische Endokrinologie und Diabetologie, Klinik für Kinderheilkunde II, Essen, Germany

Introduction: Due to the improvement of medical care, many patients with Duchenne's muscular dystrophy nowadays reach adolescence. No data are available concerning growth and pubertal development, therefore we accomplish a cross-sectional study at the DMD-out-patient department at the university hospital of Essen.

Methods: We examined 78 adolescent boys (age:0.5–22.5 years) with DMD by conducting a muscle biopsy or a molecular genetic analysis regarding growth and pubertal development. We calculated the Body Mass Index (BMI), assessed pubertal devolvement with the TANNER stages, and measured testicle volume by comparative palpation with PRADER's orchidometer. All data was converted into Standard Deviation Scores (SDS). The SDS are given as median, 25% and 75% quantile as well as range. In line with a second examination we took blood from 40 patients to determine the parameters of the hypothalamus-pituitary gland-gonad axis and the parameters of the somatotrope axis.

Results: Patients with DMD are smaller (-1.18, -2.81 bis -0.3) than their healthy peers and have a tendency to have a higher BMI (0,71, 0,25 bis1,57). Their pubertal development is delayed in syncrisis to a comparison group (healthy boys of 1. Zurich longitudinal growth study): patients with DMD reach genital stages at a higher age than healthy boys (G2:11.2 vs. 12,1 years; G3:12.9 vs. 14.4 years; G4:13.8 vs. 16.9 years; G5:14.7 vs. 17.6 years, all p=<0.001). Also stages of pubic hair development are achieved later (PH3:13.5 vs. 18.6 years; PH4:14.2 vs. 16.9 years; PH5:14.9 vs. 19.4 years, all p=<0.001). Laboratory tests in patients with DMD often revealed a hypogonadotropic hypogonadism and a partial growth hormone deficit.

Conclusion: Patients with DMD are smaller, more obese and start puberty at a later point of time than boys of the external control group. The hypogonadotropic hypogonadism has to be seen as a cause of delayed puberty. If these findings result in the indication for a puberty-inducing therapy, it would need to be discussed in an interdisciplinary setting for each individual case.