Ausência ou retardo da puberdade em meninos com distrofia muscular de Duchenne e em tratamento com corticóide
USA – neste estudo retrospectivo foram estudados os pacientes com Duchenne, de 13 a 19 anos, que fazem tratamento com corticóides. A grande maioria dos pacientes não apresentava evidência de puberdade. Os resultados demonstram a necessidade de acompanhamento especializado na puberdade a partir dos 12 anos com intervenção após os 14 anos. O tratamento deve ser interdisciplinar e avaliar todas as doenças concomitantes como a osteoporose.
O resumo em inglês pode ser lido abaixo:
(ENDO 2011, Boston, 6-9 June) Puberty Is Delayed or Absent in Duchenne Muscular Dystrophy Boys on Chronic Glucocorticoid Therapy
MM Rutter, SR Rose, J Collins, H Sucherew, B Wong. Cincinnati Children’s Hospital Medical Center and University of Cincinnati, Cincinnati, OH; Cincinnati Children’s Hospital Medical Center and University of Cincinnati, Cincinnati, OH; Cincinnati Children’s Hospital Medical Center, Cincinnati, OH.
Background: Duchenne Muscular Dystrophy (DMD) is a progressive neuromuscular disorder affecting 1 in 3500 boys. Chronic glucocorticoid (GC) treatment is considered standard therapy, and slows disease progression. However, GCs cause osteoporosis, growth failure, obesity, insulin resistance and pubertal delay, compromising quality of life. Absent or delayed puberty is an important problem which negatively impacts bone health, growth, self esteem and muscle strength. The prevalence in DMD is not known, and it is frequently under-recognized and untreated.
Objective: To determine the prevalence of delayed or absent puberty in DMD on GC therapy.
Methods: Patients aged 13 to 19 years with confirmed DMD on chronic daily GC treated in the Cincinnati Neuromuscular Comprehensive Care Center were studied. Clinical data was obtained from an IRB-approved database and chart review. Pubertal status was assessed annually by measuring early morning total testosterone concentrations and/ or pubertal examination by an endocrinologist.
Results: Of 64 boys aged ≥ 13 years, 56 (88%) had no evidence of puberty. Of 49 boys aged ≥ 14 years, 41(84%) showed no signs of puberty. Overall, 3 boys had pubertal arrest with very low testosterone levels for age or testicular size. Only 5 boys were in puberty; of these, 2 had 4 mL testes at age 14 years and 2 showed no significant progression over 2 years. Of 22 boys aged ≥ 16 years, 21 (95%) still had absent or arrested puberty. 47/59 (80%) boys with absent/ arrested puberty had severe osteoporosis. Absent puberty was distressing to 25 boys who as a result were treated with testosterone, 14 using topical gel.
Conclusions: Most DMD boys on chronic daily GC do not develop spontaneous puberty, or fail to progress. The problem does not tend to improve with age. Primary providers need an increased awareness to facilitate timely referral to an endocrinologist. We recommend clinical assessment and discussion by age 12 and referral by age 14 years. Management should be proactive and interdisciplinary, with attention to related co-morbidities such as osteoporosis.
