PMC5404469_01
PMC5404469_02
Family tree. 1. Proband, 2. Affected daughter, 3. Healthy son. Circles: females, squares: males, X: dead.
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Her 47-year-old daughter had been treated by one of the authors in 2006 for severe hypercortisolism (Fig. 1).
Daughter's abdominal CT. Bilateral enlarged adrenal glands, with lobulated contours, both with a maximum diameter of 15 cm.
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Cushing's syndrome due to PBMAH, with ACTH <5 pg/mL, UFC 201 microg/dL (normal range 20-90), serum cortisol 16.2 microg/dL after standard low-dose dexamethasone suppression test and bilateral enlargement of the adrenal glands on CT, both with a maximum diameter of 15 cm and lobulated contour (Fig. 2). Cortisol response to various stimuli was assessed and confirmed persistent stimulation by tetracosactide, but no response to LHRH, TRH and metoclopramide (Table 1).
Daughter's lobulated right and left adrenal specimens with 68 g and 104 g, respectively.
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She underwent open bilateral adrenalectomy (Fig. 3), histological diagnosis: cortical macronodular hyperplasia.
Proband's abdominal MRI. Bilateral enlarged adrenal glands, with lobulated contours, heterogeneous nodular structure, the right one with 55 x 54 x 30 mm and the left one with 85 x 53 x 39 mm.
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MR imaging showed bilateral enlarged adrenal glands (Fig. 4).  
Chromatograph of the sequence: above, reference sequence, below, patients' sequence. The insertion of an adenine (A) between the amino acid 172 and 173 according to ARMC5 cDNA (transcript NM_001105247) lead to a frame-shift and at the protein level to p.I58Nfs*45.
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ARMC5 gene was performed both in the mother and daughter. ARMC5 sequencing analysis in DNA extracted from peripheral blood leucocyte showed a heterozygous mutation c.172_173insA (p.I58Nfs*45) on exon 1 in both women (Fig. 5).