Diagnosis and Treatment > Signs and Symptoms
Search for other papers by Aishah Ekhzaimy in
Google Scholar
PubMed
Search for other papers by Afshan Masood in
Google Scholar
PubMed
Search for other papers by Seham Alzahrani in
Google Scholar
PubMed
Search for other papers by Waleed Al-Ghamdi in
Google Scholar
PubMed
Search for other papers by Daad Alotaibi in
Google Scholar
PubMed
Search for other papers by Muhammad Mujammami in
Google Scholar
PubMed
Summary
Central diabetes insipidus (CDI) and several endocrine disorders previously classified as idiopathic are now considered to be of an autoimmune etiology. Dermatomyositis (DM), a rare autoimmune condition characterized by inflammatory myopathy and skin rashes, is also known to affect the gastrointestinal, pulmonary, and rarely the cardiac systems and the joints. The association of CDI and DM is extremely rare. After an extensive literature search and to the best of our knowledge this is the first reported case in literature, we report the case of a 36-year-old male with a history of CDI, who presented to the hospital’s endocrine outpatient clinic for evaluation of a 3-week history of progressive facial rash accompanied by weakness and aching of the muscles.
Learning points:
-
Accurate biochemical diagnosis should always be followed by etiological investigation.
-
This clinical entity usually constitutes a therapeutic challenge, often requiring a multidisciplinary approach for optimal outcome.
-
Dermatomyositis is an important differential diagnosis in patients presenting with proximal muscle weakness.
-
Associated autoimmune conditions should be considered while evaluating patients with dermatomyositis.
-
Dermatomyositis can relapse at any stage, even following a very long period of remission.
-
Maintenance immunosuppressive therapy should be carefully considered in these patients.
Search for other papers by Natassia Rodrigo in
Google Scholar
PubMed
Search for other papers by Samantha Hocking in
Google Scholar
PubMed
Summary
This case illustrates the exceedingly rare phenomenon of transient diabetes insipidus, in association with pre-eclampsia, occurring in the post-partum period following an in vitro fertilisation pregnancy, in an otherwise well 48-year-old lady. Diabetes insipidus can manifest during pregnancy, induced by increased vasopressinase activity secreted by placental trophoblasts and usually manifests in the third trimester. This presentation elucidates not only the intricate balance between the physiology of pregnancy and hormonal homeostasis, but also the importance of post-partum care as the physiological changes of pregnancy still hold pathological potential in the weeks immediately following delivery.
Learning points:
-
Diabetes insipidus (DI) is a rare complication of pregnancy occurring in 1 in 30 000 pregnancies.
-
It is associated with excessive vasopressinase activity, secreted by placental trophoblasts, which increases the rate of degradation of anti-diuretic hormone.
-
It is responsive to synthetic desmopressin 1-deanimo-8-d-arginine vasopressin as this form is not degraded by placental vasopressinase.
-
Vasopressinase is proportional to placental weight, which is increased in pregnancies conceived with assisted reproductive techniques including in vitro fertilisation.
-
Vasopressinase-induced DI is associated with pre-eclampsia.
Search for other papers by Florence Gunawan in
Google Scholar
PubMed
Search for other papers by Elizabeth George in
Google Scholar
PubMed
Search for other papers by Adam Roberts in
Google Scholar
PubMed
Summary
Immune checkpoint inhibitors are the mainstay of treatment for advanced melanoma, and their use is being increasingly implicated in the development of autoimmune endocrinopathies. We present a case of a 52-year-old man with metastatic melanoma on combination nivolumab and ipilumimab therapy who developed concurrent hypophysitis, type 1 diabetes mellitus (T1DM) and diabetes insipidus. He presented prior to third cycle of combination treatment with a headache, myalgias and fatigue. Biochemistry and MRI pituitary confirmed anterior pituitary dysfunction with a TSH: 0.02 mU/L (0.5–5.5 mU/L), fT4: 5.2 pmol/L (11–22 pmol/L), fT3: 4.0 pmol/L (3.2–6.4 pmol/L), cortisol (12:00 h): <9 nmol/L (74–286 nmol/L), FSH: 0.7 IU/L (1.5–9.7 IU/L), LH: <0.1 IU/L (1.8–9.2 IU/L), PRL: 1 mIU/L (90–400 mIU/L), SHBG: 34 nmol/L (19–764 nmol/L) and total testosterone: <0.4 nmol/L (9.9–27.8 nmol/L). High-dose dexamethasone (8 mg) was administered followed by hydrocortisone, thyroxine and topical testosterone replacement. Two weeks post administration of the third cycle, he became unwell with lethargy, weight loss and nocturia. Central diabetes insipidus was diagnosed on the basis of symptoms and sodium of 149 mmol/L (135–145 mmol/L). Desmopressin nasal spray was instituted with symptom resolution and normalization of serum sodium. Three weeks later, he presented again polyuric and polydipsic. His capillary glucose was 20.8 mmol/L (ketones of 2.4 mmol), low C-peptide 0.05 nmol/L (0.4–1.5 nmol/L) and HbA1c of 7.7%. T1DM was suspected, and he was commenced on an insulin infusion with rapid symptom resolution. Insulin antibodies glutamic acid decarboxylase (GAD), insulin antibody-2 (IA-2) and zinc transporter-8 (ZnT8) were negative. A follow-up MRI pituitary revealed findings consistent with recovering autoimmune hypophysitis. Immunotherapy was discontinued based on the extent of these autoimmune endocrinopathies.
Learning points:
-
The most effective regime for treatment of metastatic melanoma is combination immunotherapy with nivolumab and ipilumimab, and this therapy is associated with a high incidence of autoimmune endocrinopathies.
-
Given the high prevalence of immune-related adverse events, the threshold for functional testing should be low.
-
Traditional antibody testing may not be reliable to identify early-onset endocrinopathy.
-
Routine screening pathways have yet to be adequately validated through clinical trials.
