Rare Diseases Symptoms Automatic Extraction

Evaluation of impact of steroid replacement treatment on bone health in children with 21-hydroxylase deficiency.

[congenital adrenal hyperplasia]

There are conflicting data regarding the potential impact of chronic glucocorticoid (GC) therapy on the bone mineral density of patients with congenital adrenal hyperplasia (CAH). Previous studies performed by dual-energy X-ray absorptiometry reported conflicting results. The purpose of this study was to assess the impact of chronic GC replacement treatment in children with classical and non classical CAH due to 21-hydroxylase deficiency (21-OHD) by quantitative ultrasonometry (QUS), an easy, cheap, and radiation-free technique. The study population consisted of nineteen 21-OHD patients (nine males) on lifelong GC treatment. Anthropometric, hormonal, and treatment data were recorded for each patient, and bone quality was assessed by QUS measurements. QUS findings (amplitude-dependent speed of sound and bone transmission time) were normal in 21-OHD patients and did not correlate with duration of treatment, daily, total, and yearly hydrocortisone dose. Furthermore, no significant correlation was found between QUS findings and 17α-hydroxy progesterone, Δ4-androstenedione, and testosterone levels. In conclusion, our results provide reassurance that currently used replacement doses of GC do not have a major impact on bone in patients with CAH. QUS seems to be a reliable tool for screening of bone health in children with 21-OHD.

Diseases presenting "bone mineral density" symptom

  • achondroplasia
  • adrenal incidentaloma
  • allergic bronchopulmonary aspergillosis
  • aromatase deficiency
  • congenital adrenal hyperplasia
  • cushing syndrome
  • dentinogenesis imperfecta
  • erythropoietic protoporphyria
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • kallmann syndrome
  • lamellar ichthyosis
  • phenylketonuria
  • primary hyperoxaluria type 1

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