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Download Primary Bilateral Adrenal Hyperplasia Pdf

Our study indicates that patients with high levels of cortisol (serum cortisol and UFC) and the larger remaining gland are more likely to need cADX. Our results are consistent with those previously reported. In patients with PBMAH and mildly increased cortisol production (UFC less than twice the upper limit of normal), uADX might be more effective [19]. High levels of cortisol implies more active secretion by bilateral adrenal glands and that even the remnant single adrenal gland remaining after uADX can still cause CS. Thus, we can infer the prognosis of patients with PBMAH according to their initial UFC and serum cortisol as follows: patients with mildly elevated UFC appear to achieve long-term remission after uADX, while cADX for patients with abnormally high UFC is usually inevitable.

Download Primary bilateral adrenal hyperplasia pdf

uADX may be an appropriate treatment for patients with mildly elevated cortisol (including serum cortisol and 24 h UFC). If a uADX is performed in the case of PBMAH, the physician must weigh the risks of having to perform a cADX later in the course of the condition. A unilateral procedure might not yield a cure, while bilateral adrenalectomy carries the unavoidable risk of adrenal insufficiency. Therefore, uADX constitutes better treatment for patients with PBMAH and CS.

To investigate Armadillo repeat-containing 5 (ARMC5) mutations in Chinese patients with familial and sporadic primary bilateral macronodular adrenal hyperplasia (PBMAH), we performed clinical data collection and ARMC5 sequencing for three PBMAH families and 23 sporadic PBMAH patients. ARMC5 pathogenic germline mutations were identified in all 3 PBMAH families. Secondary ARMC5 somatic mutations were found in two adrenal nodules from two PBMAH family members with ARMC5 germline mutations. PBMAH family members with ARMC5 pathogenic germline mutations displayed various clinical manifestations. ARMC5 pathogenic germline mutations were identified in 5 sporadic PBMAH patients among whom one patient displayed both hypercortisolism and primary aldosteronism. We detected a total of 10 ARMC5 pathogenic mutations, of which 8 had not been previously reported. Our results suggest that ARMC5 pathogenic germline mutations are common in familial and sporadic Chinese PBMAH patients, and demonstrate the importance of ARMC5 screening in PBMAH family members to detect patients with insidious PBMAH.

PBMAH family-1 had 14 members including 9 who participated in the clinical data collection and gene sequencing (Fig 1A; Table 1). The proband (II-5 in family-1 or F1-II-5) was admitted to the hospital at 36 years old due to hypertension, diabetes and a cushingoid appearance including moon face, plethora and central obesity. The plasma ACTH levels of F1-II-5 were suppressed, and his 24 h UFC was as high as 4765 μg. The results of both the LDDST and the HDDST were not suppressed, and an adrenal CT scan revealed multiple nodules in the bilateral enlarged adrenal glands, suggesting the diagnosis of PBMAH. He underwent left adrenalectomy. One year after the surgery, the patient was admitted to the hospital again for a systemic evaluation. The ACTH levels were still suppressed, but the 24 h UFC was only 188 μg, which was much lower than before. Meanwhile, there were great improvements in blood pressure, glucose metabolism and the cushingoid appearance.

There were 9 members in PBMAH family-2, among whom 7 participated in the clinical data collection and gene sequencing (Fig 2A; Table 1). The proband (F2-II-2) was admitted to the hospital at 43 years of age due to hypertension, diabetes, and a cushingoid appearance including moon face, plethora, buffalo hump, striae, thin skin and central obesity. He had an abnormal serum cortisol rhythm and suppressed plasma ACTH levels. Further examinations indicated that he had osteoporosis, hypokalemia, dyslipidemia and ventricular hypertrophy in addition to hypertension and diabetes. A CT scan revealed multiple bilateral adrenal nodules. He underwent left adrenalectomy at first and partial right adrenalectomy half a year later. Afterwards, he took prednisone orally for replacement therapy with the dosage gradually adjusted to 5 mg in the morning and 2.5 mg in the afternoon. The symptoms, signs and complications caused by hypercortisolism were greatly improved after the surgeries on the bilateral adrenals.

There were 7 members in PBMAH family-3. Six of them participated in the clinical data collection and gene sequencing (Fig 3A; Table 1). Adrenal masses were incidentally detected in a thoracic CT scan of the proband (F3-II-2, age 55). He then had an adrenal contrast CT scan, and multiple bilateral adrenal nodules were found. The 24 h UFC exceeded twice the upper limit of the normal range. Based on a query of the family history of the proband, we learned that his brother (F3-II-1) was diagnosed with PBMAH at age 53. F3-II-1 had typical symptoms and signs due to excess cortisol levels. He underwent bilateral adrenal excision. Afterwards, he took hydrocortisone tablets for replacement therapy with the dosage eventually adjusted to 20 mg in the morning and 10 mg in the afternoon. His symptoms, signs and complications caused by hypercortisolism were greatly improved after bilateral adrenalectomy. F3-II-3, F3-III-2, F3-III-3 and F3-III-4 had no signs or symptoms of hypercortisolism (Fig 3A; Table 1).

Clinical images. Abdominal CT scan shows nodular enlargement of bilateral adrenal glands (arrows) (a).131 I-Adosterol scintigraphy shows increased uptake of radioactivity to bilateral adrenal glands (b)

Conventionally, bilateral adrenalectomy was the treatment of choice for patients with AIMAH, and life-time steroid replacement therapy is required afterwards. On the contrary, recent reports have shown that unilateral adrenalectomy of predominant side successfully improves hormonal status and clinical symptoms of the patient with AIMAH [2, 8]. In this case, we conducted left adrenalectomy because AVS showed the result of aldosterone hypersecretion from the left adrenal gland. His postoperative course has been passed without any problems. The limit of unilateral adrenalectomy is the possibility of recurrent disease due to the growth of the residual adrenal gland. In that case, contralateral adrenalectomy may have to be performed, followed by life-time steroid replacement therapy. Lately, it has been revealed that cortisol hyper secretion of AIMAH was caused by various ectopic receptors, such as gastric inhibitory polypeptide (GIP) receptor [9], vasopressin receptor [10], serotonin receptor,[11] luteinizing hormone/human chronic gonadotropin (LH/hCG) [12], and β-adrenergic receptor,[13] present in adrenocortical cells. The effectiveness of antagonist to these receptors has been reported [10, 12, 13].

In summary, we reported a rare case of AIMAH accompanied by PA due to UMN which is confirmed by a detailed histopathological examination. When the molecular physiology of AIMAH is clarified, medication with antagonist to specific receptor may become a possible alternative treatment to an invasive bilateral adrenalectomy, and this may avoid the life-time steroid replacement therapy. Further investigation and careful observation are needed to reveal the etiology of AIMAH and its long-term prognosis.

A 51-year-old woman was admitted to our department for 2 months to identify masses in the bilateral adrenals. Physical examination revealed typical Cushingoid features, including a full moon face, central obesity, and purple striae of the bilateral axillary and lower abdomen.

Adrenal computed tomography (CT) revealed bilateral adrenal masses (left: 3.2*2.4 cm and right: 2.2*2.1 cm) (Fig. 1a and b), while chest CT revealed an old right rib fracture. Pituitary magnetic resonance imaging (MRI) was normal, whereas vertebral MRI revealed a compression fracture of the thoracolumbar spine (T7 and L3).

On January 19th, 2016, the patient underwent a left adrenalectomy using the retroperitoneal laparoscopic procedure. Surgically removed adrenal glands demonstrated nodular hyperplasia without hemorrhage or infarction, and histopathology substantiated the BMAH diagnosis (Fig. 1c and d).

Adrenal hyperplasia is a genetic disorder and physiologic overgrowth of adrenocortical tissue that affects the adrenal glands. It can be nodular or diffuse. Diffuse type manifests as a diffuse and smooth increase in the size of adrenal glands [6]; the nodular forms can be further classified into the primary pigmented micronodular adrenal type and the isolated micronodular hyperplasia (iMAD) type [7]. iMAD is characterized by a hyperplasia of the internodular tissue [8]. Patients with iMAD can be easily misdiagnosed with other high-attenuation diseases, such as LPA [3, 9]. The diagnosis of this condition is mainly based on conventional clinic and radiological methods, which are not sensitive enough to differentiate iMAD from LPA.

Patients with adrenal adenoma and adrenal hyperplasia can have similar clinical symptoms, including primary hypertension, primary aldosteronism, or Cushing's syndrome [10, 11]. Thus, differentiating these conditions may be challenging. While adrenal hyperplasia is resolved using a medication, patients with adrenal adenoma usually require surgery, i.e., adrenalectomy [12]. Adrenalectomy lowers blood pressure levels [13], ameliorates hypokalemia, reduces plasma aldosterone levels [14], and drastically increases survival in patients without atrial fibrillation [15]. On the other hand, the use of adrenalectomy in the management of adrenal hyperplasia is controversial. Surgery has been associated with certain side effects in these patients, including abnormal circadian rhythm [16] and corticotrophin deficiency [17]; also, these patients have a higher risk of having anesthesia accidents and extra medical expenses. Thus, accurate preoperative diagnosis is of utmost importance for therapy decision-making [18]. However, diagnosing based on conventional clinic and radiological methods remains challenging. Hence, a high-performance diagnostic approach needs to be established and certified. 041b061a72

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