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- W2082283728 abstract "Chronic glucocorticoids (GCs) are standard therapy and slow disease progression in Duchenne Muscular Dystrophy (DMD). However, GCs cause adverse endocrine effects, including pubertal delay, growth failure and osteoporosis. Absent/delayed puberty is an important problem in DMD which, in turn, negatively impacts bone health, growth, self esteem and muscle strength. The prevalence in DMD is unknown, and it is frequently under-recognized and untreated. To determine the prevalence of absent/delayed puberty in DMD boys on GC therapy. DMD patients, aged 13–19 years on chronic daily GCs, 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. Of 64 boys aged 13 years, 56 (88%) had no evidence of puberty. Of 49 boys aged 14 years, 41 (84%) had 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/ 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. Most DMD boys on chronic daily GCs 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." @default.
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- W2082283728 date "2011-10-01" @default.
- W2082283728 modified "2023-10-08" @default.
- W2082283728 title "P4.1 Puberty is delayed or absent in Duchenne Muscular Dystrophy boys on chronic glucocorticoid therapy" @default.
- W2082283728 doi "https://doi.org/10.1016/j.nmd.2011.06.966" @default.
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