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Diagnosis and Treatment > Investigation > Aldosterone (24-hour urine)

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Ken Takeshima First Department of Internal Medicine, Wakayama Medical University, Wakayama,, Japan

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Hiroyuki Ariyasu First Department of Internal Medicine, Wakayama Medical University, Wakayama,, Japan

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Tatsuya Ishibashi First Department of Internal Medicine, Wakayama Medical University, Wakayama,, Japan

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Shintaro Kawai First Department of Internal Medicine, Wakayama Medical University, Wakayama,, Japan

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Shinsuke Uraki First Department of Internal Medicine, Wakayama Medical University, Wakayama,, Japan

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Jinsoo Koh Department of Neurology, Wakayama Medical University, Wakayama,, Japan

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Hidefumi Ito Department of Neurology, Wakayama Medical University, Wakayama,, Japan

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Takashi Akamizu First Department of Internal Medicine, Wakayama Medical University, Wakayama,, Japan

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Summary

Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disease affecting muscles, the eyes and the endocrine organs. Diabetes mellitus and primary hypogonadism are endocrine manifestations typically seen in patients with DM1. Abnormalities of hypothalamic–pituitary–adrenal (HPA) axis have also been reported in some DM1 patients. We present a case of DM1 with a rare combination of multiple endocrinopathies; diabetes mellitus, a combined form of primary and secondary hypogonadism, and dysfunction of the HPA axis. In the present case, diabetes mellitus was characterized by severe insulin resistance with hyperinsulinemia. Glycemic control improved after modification of insulin sensitizers, such as metformin and pioglitazone. Hypogonadism was treated with testosterone replacement therapy. Notably, body composition analysis revealed increase in muscle mass and decrease in fat mass in our patient. This implies that manifestations of hypogonadism could be hidden by symptoms of myotonic dystrophy. Our patient had no symptoms associated with adrenal deficiency, so adrenal dysfunction was carefully followed up without hydrocortisone replacement therapy. In this report, we highlight the necessity for evaluation and treatment of multiple endocrinopathies in patients with DM1.

Learning points:

  • DM1 patients could be affected by a variety of multiple endocrinopathies.

  • Our patients with DM1 presented rare combinations of multiple endocrinopathies; diabetes mellitus, combined form of primary and secondary hypogonadism and dysfunction of HPA axis.

  • Testosterone treatment of hypogonadism in patients with DM1 could improve body composition.

  • The patients with DM1 should be assessed endocrine functions and treated depending on the degree of each endocrine dysfunction.

Taxonomy:
Clinical Overview, Gland/Organ, Adrenal, Topic, Adrenal, Hormone, ACTH, Aldosterone, Cortisol, FSH, IGF1, Insulin, LH, Prolactin, Testosterone, Condition/ Syndrome, Adrenal insufficiency, Autoimmune hypophysitis, Hypergonadotropic hypogonadism, Hyperkalaemia, Hypernatraemia, Hypogonadism, Insulin resistance, Myotonic dystrophy type 1, Patient Demographics, Age, Adult, Gender, Male, Ethnicity, Asian - Japanese, Country of Treatment, Japan, Diagnosis and Treatment, Signs and Symptoms, Diabetes mellitus type 2, Erectile dysfunction, Facies - abnormal, Hyperkalaemia, Hypernatraemia, Hypogonadism, Insulin resistance, Libido reduction/loss, Muscle atrophy, Myasthaenia, Myopathy, Obesity, T-reflex (depressed), Investigation, ACTH, Adrenal function, Aldosterone (24-hour urine), Aldosterone (blood), BMI, Body fat mass, Corticotropin-releasing hormone stimulation test, Cortisol, free (24-hour urine), C-peptide (24-hour urine), C-peptide (blood), CT scan, Electromyography, FSH, Glucose (blood, fasting), Haemoglobin A1c, IGF1, LH, Molecular genetic analysis, Potassium, Prolactin, Respiratory status, Skeletal muscle mass, Sodium, Testosterone, Triglycerides, Waist circumference, White blood cell count, Intervention, Diet, Medication, Alpha-glucosidase inhibitors, DPP4 inhibitors, Insulin, Insulin glargine, Metformin, Pioglitazone, Sitagliptin, Testosterone, Testosterone enanthate esters, Thiazolidinediones, Voglibose, Related Disciplines, Neurology, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-17-0143
Volume/Issue:
Volume 2018: Issue 1
Open access
Tohru Eguchi Department of Internal Medicine, Uwajima City Hospital, 1-1 Gotenmachi, Uwajima, Ehime, 798-8510, Japan

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Shozo Miyauchi Department of Internal Medicine, Uwajima City Hospital, 1-1 Gotenmachi, Uwajima, Ehime, 798-8510, Japan

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Summary

A 43-year-old Japanese woman was admitted to our hospital with weakness. Laboratory findings showed hypokalemia, hypocalcemia and elevation of the serum creatinine phosphokinase levels, but intact parathyroid hormone levels. Further evaluations suggested that she had primary aldosteronism (PA), secondary hyperparathyroidism and bilateral adrenal tumors. She was treated successfully by laparoscopic right adrenalectomy. This case not only serves to the diagnosis of bilateral adrenal tumors in which selective adrenal venous sampling (SAVS) proved to be useful, but also for physicians to be aware of secondary hyperparathyroidism and the risk of secondary osteoporosis caused by PA.

Learning points

  • The classic presenting signs of PA are hypertension and hypokalemia.

  • Hypokalemia can induce rhabdomyolysis.

  • PA causes secondary hyperparathyroidism.

  • Patients with PA have the risk of osteoporosis with secondary hyperparathyroidism.

  • SAVS is useful in bilateral adrenal tumors.

Taxonomy:
Clinical Overview, Gland/Organ, Adrenal, Topic, Adrenal, Hormone, Aldosterone, Mineralocorticoids, PTH, Condition/ Syndrome, Adrenocortical adenoma, Conn's syndrome, Hyperaldosteronism, Hyperparathyroidism (secondary), Patient Demographics, Age, Adult, Gender, Female, Ethnicity, Asian - Japanese, Country of Treatment, Japan, Diagnosis and Treatment, Signs and Symptoms, Hypertension, Investigation, ACTH stimulation, Aldosterone (24-hour urine), Aldosterone (plasma), Aldosterone to renin ratio, Bone mineral density test, C1NP, Calcium (serum), Cortisol (serum), CT scan, Dexamethasone suppression (low dose), Immunohistochemistry, Potassium, PTH, TRAP 5b, Intervention, Adrenalectomy, Medication, Potassium chloride, Related Disciplines, Radiology/Rheumatology, Surgery, Urology, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-15-0029
Volume/Issue:
Volume 2015: Issue 1
Open access