Rare Diseases Symptoms Automatic Extraction

The role of imaging in congenital adrenal hyperplasia.

[congenital adrenal hyperplasia]

Congenital adrenal hyperplasia (CAH) is an autossomic recessive disorder caused by impaired steroidogenesis. Patients with CAH may present adrenal insufficiency with or without salt-wasting, as well as various degrees of virilization and fertility impairment, carrying a high incidence of testicular adrenal rest tumors and increased incidence of adrenal tumors. The diagnosis of CAH is made based on the adrenocortical profile hormonal evaluation and genotyping, in selected cases. Follow-up is mainly based on hormonal and clinical evaluation. Utility of imaging in this clinical setting may be helpful for the diagnosis, management, and follow-up of the patients, although recommendations according to most guidelines are weak when present. Thus, the authors aimed to conduct a narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography, ultrasonography, computed tomography, and magnetic resonance imaging.

Diseases presenting "high incidence" symptom

  • achondroplasia
  • acute rheumatic fever
  • alexander disease
  • alpha-thalassemia
  • aniridia
  • coats disease
  • congenital adrenal hyperplasia
  • dystrophic epidermolysis bullosa
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • fabry disease
  • familial mediterranean fever
  • gm1 gangliosidosis
  • hodgkin lymphoma, classical
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • legionellosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • papillon-lefèvre syndrome
  • scrub typhus
  • typhoid
  • von hippel-lindau disease
  • werner syndrome

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