Details

Autor(en) / Beteiligte

• Tella, Sri Harsha
• Mallappa, Ashwini
• Merke, Deborah P

Titel

VISUAL VIGNETTE

Ist Teil von

• Endocrine practice, 2018-06, Vol.24 (6), p.606-606

Ort / Verlag

United States: Elsevier Limited

Erscheinungsjahr

2018

Link zum Volltext

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• Case Presentation: A 25-year-old-male with simple-virilizing congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency reported doing well except for salt craving. He disclosed that he had stopped taking his medications for 6 years because of weight gain and moodiness, which he perceived to be medication related. Physical examination revealed generalized hyperpigmentation and testicular volume of 12 cc bilaterally (previously 25 cc). Laboratory evaluation (8 am) showed adrenocorticotropic hormone (ACTH) 889 pg/mL (normal range, 5 to 46 pg/mL), cortisol 3.6 pg/dL (normal range, 5 to 25 pg/ dL), 17-hydroxyprogesterone 22,404 ng/dL (normal range, 13 to 120 ng/dL), androstenedione 1,762 ng/dL (normal range, 26 to 125 ng/dL), plasma renin activity 29 ng/mL/hour (normal range, 0.6 to 4.3 ng/mL/hour), total testosterone 275 ng/dL (normal range, 240 to 950 ng/dL), luteinizing hormone 0.2 U/L (normal range, 1 to 8 U/L), and follicle-stimulating hormone 0.2 U/L (normal range, 1 to 11 U/L). An abdominal computed tomography (CT) scan obtained at age 19 had shown diffuse enlargement of both adrenals (Fig. 1). Because of his noncompliance, a repeat abdominal CT was performed (Fig. 2). What is the diagnosis?