Journal of Clinical and Translational Endocrinology: Case Reports最新文献

The Wolfram syndrome is a rare dysmorphogenetic disease of autosomal recessive hereditary nature, characterized by insulin-dependent diabetes mellitus; the disease also has a constellation of other complications contributing to the acronym DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). It comprises a wide spectrum of additional morbidities including hypopituitarism, hypogonadism, urinary tract problems, infertility, and neurological and psychiatric disorders. We present a rare case of a 22-year Type-1 Diabetic male diagnosed with Wolfram syndrome along with features suggestive of hypogonadism. The diagnosis of Wolfram syndrome is not always apparent in the first stages of the disease. Thus, our patient had to undergo several clinical tests for confirmation of diagnosis including fundoscopy, audiometry, water deprivation test, and renal sonography. The fundoscopy revealed bilateral optic atrophy. He also had moderate bilateral sensorineural hearing loss confirmed with an audiogram. A water deprivation test was performed which established the diagnosis of diabetes insipidus. Hence, this clinical case ascertains variability in the clinical features of Wolfram syndrome.

Background/objective

Sodium-glucose cotransporter 2 (SGLT-2) inhibitors are known to increase the risk of euglycemic diabetic ketoacidosis (DKA). Hyperglycemic DKA (hDKA), however, is not a common side effect of SGLT-2 inhibitor monotherapy.

Case report

We present a case of hyperglycemic DKA in a middle-aged Caucasian male with a history of type 2 diabetes on monotherapy with an SGLT-2 inhibitor, no history of insulin deficiency or evidence of autoimmune diabetes and no precipitating factors for DKA at presentation. The patient was discharged from the hospital on insulin therapy after resolution of DKA and was transitioned to an oral anti-hyperglycemic regimen which did not include SGLT-2 inhibitors. Close outpatient follow up subsequently revealed declining C-peptide levels and increasing hemoglobin A1C levels without any episodes of DKA.

Discussion

The mechanisms by which SGLT-2 inhibitors cause hDKA are not fully understood and likely involve hyperglucagonemia. Inhibition of SGLT-2 by dapagliflozin has been shown to paradoxically trigger glucagon secretion at higher glucose concentrations possibly due to direct effects on K_ATP channel activation and membrane depolarization in pancreatic α-cells.

Conclusion

We conclude that monotherapy with SGLT-2 inhibitors presents a risk of not just euglycemic, but also hyperglycemic diabetic ketoacidosis in patients with type 2 diabetes and declining endogenous insulin production.

H syndrome is a very rare auto inflammatory syndrome which is characterized by a constellation of symptoms mostly beginning with the letter H. Hypertrichosis, Hyperpigmentation, Hyperlipidemia, Hyperglycemia, Hypogonadism, Hepatomegaly, Hearing loss, Heart anomalies and short Height.

Here we report a 14 years old boy with the diagnosis of H syndrome who was being treated for diabetes since he was 2 years old.

Congenital aldosterone synthase deficiency (ASD) is a rare autosomal recessive condition that causes isolated primary hypoaldosteronism. It has been associated with different pathogenic mutations of the CYP11B2 gene. We report a case of isolated primary hypoaldosteronism with a CYP11B2 variant with uncertain significance (VUS). A 10-month-old boy presented with failure to thrive and developmental delay. Biochemical testing revealed: hyponatremia (sodium, 126) mmol/L; hyperkalemia (potassium, 5.6 mmol/L); high plasma renin activity, 9670 pmol/L; and low aldosterone, <0.97 pmol/L, pointing to the diagnosis of ASD-induced primary isolated hypoaldosteronism. He substantially improved after initiating treatment with fludrocortisone and NaCl for one year and adhered to fludrocortisone till the age of 5 years; he stopped treatment for the next 2 years. He subsequently returned with dizziness, headache, nausea, and poor appetite, requiring re-treatment with fludrocortisone. This case with a CYP11B2 VUS homozygous and a relatively late presentation emphasizes that ASD-induced isolated primary hypoaldosteronism represents a complex diagnostic and therapeutic challenge.

Background

Late dumping syndrome (LDS) refers to reactive hyperinsulinemic hypoglycemia episodes that occur one to 3 h following a high-carbohydrate meal in persons who have had gastric surgery. Dietary adjustments (such as regular composite meals containing lipids, protein, and carbohydrates with a low glycemic index) are effective in treating the majority of LDS patients; however, pharmaceutical interventions are required in some cases.

Case presentation

We describe the case of a 60-year-old woman with type 2 diabetes (T2DM) who developed late dumping syndrome symptoms following a gastric cancer gastrectomy. Both the 75-g oral glucose tolerance test (OGTT) and the mixed-meal tolerance test (MMTT) revealed reactive hyperinsulinemic hypoglycemia. We began therapy with canagliflozin, a sodium glucose-cotransporter (SGLT) inhibitor 300 mg before lunch after realizing that dietary changes were insufficient in reducing the occurrence of symptomatic hypoglycemic episodes. We repeated the OGTT after treatment, and the results showed still the presence of symptomatic hypoglycemia without significant differences in peak insulin values compared to the OGTT performed before treatment. Instead, the MMT showed a small, flattened insulin response without any hypoglycemic episodes. Furthermore, improvements were observed in glucose trends/targets as demonstrated by time in (TIR), above (TAR) and below (TBR) range and glucose variability (e.g. coefficient of variation) based on data collected from Flash Glucose Monitoring (FGM) before and during canagliflozin therapy.

Conclusion

The rapid transit of inadequately digested chyme from the stomach into the small intestine is one of the most important pathophysiological processes in LDS. Canagliflozin, unlike other molecules in the same family, inhibits intestine SGLT-1. By delaying glucose absorption at that level, it may reduce postprandial glucose and insulin rises. Our case report, however, demonstrates that the effect of canagliflozin on glucose homeostasis is determined by appropriate dietary habits, which seem to be critical for successfully reducing symptoms related to reactive hyperinsulinemic hypoglycemia following a gastric bypass surgery.

McCune-Albright syndrome is a rare, non-familial disorder characterized by various clinical presentations. While it is well-known for its classic triad of symptoms of fibrous dysplasia, café-au-lait macules, and precocious puberty, McCune-Albright syndrome can also cause a spectrum of endocrine dysfunction symptoms. This variability in presentation can lead to extensive manifestations and significant delays in diagnosis, as demonstrated by the following case.

A 42-year-old woman presented with a facial bony lesion, coarse features, and extremities enlargement. By returning to the patient's history, the initial manifestation was an undiagnosed painless fibrous dysplasia lesion, found at the age of 15. This atypical presentation, combined with the absence of precocious puberty, effectively masked the underlying McCune-Albright syndrome for decades.

By the time of diagnosis, the disease had progressed significantly with polyostotic fibrous dysplasia, and a complex endocrine picture characterized by growth hormone excess, hyperprolactinemia, hypercortisolism, and secondary amenorrhea.

Background

Diabetic striatopathy primarily is characterized by choreiform movements due to hyperglycemic injury to the basal ganglia in a type 2 diabetes mellitus (T2DM) patient. Hemi-hyperalgesia as a presenting symptom in diabetic striatopathy has not been reported previously.

Case presentation

Fifty-eight-year type 2 diabetes female presented to the emergency department with complains of left-sided body pain and tingling sensation in the left upper and lower limbs for 3 days. Along with this, she gave a brief history of involuntary movements of bilateral upper limbs. On investigation, her fasting blood sugar was 28.5 mmol/l, postprandial blood sugar was 43.4 mmol/l, HbA1C was 16.8 %. Computed tomography (CT) head showed hyperdense area in the right caudate nucleus, right putamen, and right cerebral peduncle of the midbrain without perilesional edema suggestive of diabetic striatopathy. She was managed with basal bolus insulin and amitriptyline. She recovered from the symptoms after a week and was discharged on oral hypoglycemic drugs.

Discussion

Radiologically diabetic striatopathy is characterized by striatal hyperdensity on CT or on T1 sequence of magnetic resonance imaging (MRI); the pathology behind which is basal ganglia injury associated with acute hyperglycemia. Our case presented with hyperalgesia and new onset tingling sensation on the background of acute hyperglycemia with T2DM. Optimal glycemic control, and management of movement disorder if present is the mainstay of treatment.

Conclusion

Although rare, diabetic striatopathy is a serious complication of uncontrolled diabetes mellitus. Strict compliance with medications and diet is required for its prevention.

Background

Thyroid hemiagenesis (TH) is a rare disorder that is usually clinically silent unless associated with other thyroidal pathologies. We present a case of a TH patient with Graves’ disease (GD). To our knowledge, this is the first ever case to be reported in Lebanon, and worldwide since 2017.

Case report

A 45-years-old woman with GD was investigated for persistent anxiety and tremors. Radiological imaging disclosed the absence of the left thyroid lobe on neck ultrasound along with increased tracer uptake by the right lobe on the thyroid scan, in keeping with toxic right hemithyroid. This is an extremely rare case of thyroid hemiagenesis associated with Graves’ disease (THGD).

Discussion

Clinical examination can help in the diagnosis of TH with the palpation of one thyroid lobe in the presence or absence of an isthmus. However to diagnose THGD, workup requires biochemical testing along with imaging and scintigraphy to complement the findings of GD in the present lobe. Follow-up visits are very important to make sure that the treatment of choice has been effective and that there has not been any relapse.

Conclusion

THGD is a rare form of thyroid disorders that can be misdiagnosed sometimes. The actual pathophysiology of the disease is still unknown.

Insulinomas are functional pancreatic neuroendocrine tumors that can cause hypoglycemia. Congenital adrenal hyperplasia (CAH) is a disease that can have mutations in a variety of mutations that comprise cortisol synthesis and require certain patients to require cortisol supplementation to prevent hypoglycemia. We report a case presentation of a patient with CAH and migraines who develops an insulinoma with neuroglycopenic symptoms. His hypoglycemia was treated with stress dose steroids and fluid resuscitation before undergoing a 72-h fast to confirm the diagnosis of an insulinoma. The patient then underwent a robotic distal pancreatectomy with postoperative stress dose steroids and had no further hypoglycemic complications on his home regimen of hydrocortisone supplementation. As his neuroglycopenic symptoms were initially thought to be migraines exacerbating his CAH, this case illustrates the need to keep a broad differential for hypoglycemia in patients with CAH. Insulinomas should be in that differential and the appropriate biochemical testing and imaging should be performed.