Transient Hypophosphatemia: A Dangerous Event in Multiple MyelomaRead the full article
Case Reports in Endocrinology publishes case reports and case series related to the endocrine system and its associated diseases.
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PES Syndrome Presenting as Severe Hyponatremia in an Asymptomatic Septuagenarian
Background. Hyponatremia is commonly seen in hospitalized patients. In euvolemic individuals, syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common differential. However, before establishing a diagnosis of SIADH, it is imperative to evaluate for hypocortisolism and hypothyroidism. The finding of endocrine abnormalities determined to be of pituitary origin should prompt evaluation by brain MRI. Furthermore, primary empty sella (PES) is commonly seen as an incidental neuroradiological finding. However, PES in association with endocrine abnormalities is recognized as a separate entity called primary empty sella syndrome (PESS). Case Presentation. We report the case of a 71-year-old male sans neurological symptoms who presented to us with severe hyponatremia in whom we used a stepwise approach which led us to the diagnosis of PESS. This methodical approach was crucial for timely correction of the endocrine abnormalities which in turn rectified hyponatremia. Intriguingly, the presence of an ectopic pituitary which is a very rare entity and the sudden manifestation of his underlying endocrine deficiencies in the 8th decade of life make this clinical scenario highly unusual. Conclusion. Clinicians should be aware that absence of an orderly approach to workup presumed SIADH or an assumption of PES (instead of PESS) could both lead to serious consequences in the face of missed endocrine deficiencies.
Metastatic Papillary Thyroid Carcinoma in a Paediatric Patient
Papillary thyroid carcinoma is the most common endocrine cancer in the paediatric population. Although the disease is diagnosed at a later stage, the prognosis is favourable. When these patients present with lymph nodal and/or pulmonary metastases, they may be initially confused for infectious diseases such as tuberculosis. Therefore, thorough clinical assessment including radiology and microbiological and histopathological assessment is important for early and correct diagnosis. We report an 11-year-old female patient who presented with cervical lymphadenopathy and the histopathological assessment confirmed metastatic papillary thyroid carcinoma. Subsequent radiological investigation revealed further metastasis to the lung. This manuscript highlights the difficulties that might be encountered in the initial management of paediatric PTC which present atypically.
Adverse Effects of Ramadan Fasting in a Girl with Salt-Losing Congenital Adrenal Hyperplasia
Objective. Congenital adrenal hyperplasia (CAH) is the most common cause of adrenal insufficiency in pediatrics. Chronic glucocorticoid replacement is the mainstay of treatment in the classic forms of CAH, and mineralocorticoid replacement therapy is mandatory in the salt-wasting form. Fasting is a mild stressor, which can expose to dehydration, hypotension, hypoglycemia, and acute adrenal crisis in patients with adrenal insufficiency. Case. We report the case of an adolescent affected by the classic form with salt-losing CAH, who observed Ramadan for 30 days, without individualized therapeutic management plan. After Ramadan, a dramatic increase of ACTH level (1081 pg/ml, n.v. 6–57), reduced cortisolemia, tendency to hypotension, and weight loss were recorded. She experienced insomnia, intense thirst, asthenia, and headache. The symptoms disappeared restarting the previous therapy schedule and increasing the total hydrocortisone daily dose with progressive restoring of hormonal control. Conclusion. Our case confirms that patients with CAH are vulnerable, especially during fasting in Ramadan, with a higher risk of acute adrenal crisis. CAH patients should reform and individualize their treatment plan and be submitted to careful monitoring.
The Glucose-Lowering Effects of Coconut Oil: A Case Report and Review of the Literature
Background. Coconut oil, a saturated fat comprised mostly of the medium-chain fatty acid, lauric acid, has become increasingly popular over the past few decades due to its touted anti-inflammatory, metabolic, and lipid-lowering properties. There have been many studies with mixed results evaluating the effects of coconut oil consumption on lipid metabolism and cardiometabolic risk. However, the effects on glucose metabolism are less clear. There are few trials on the effects of coconut oil on glucose homeostasis but no case reports prior to the current one. Case. We present a case of a 66-year-old man with a history of type 2 diabetes managed with insulin who developed recurrent hypoglycemia and required reduction in insulin therapy quickly after consuming coconut oil supplementation. Conclusion. This is the first known case report of coconut oil supplementation in a diabetic patient on insulin resulting in hypoglycemia. Review of the literature shows that coconut oil supplementation can have a favorable effect on glycemic control, possibly through phenolic compounds mediating anti-inflammatory effects. This effect is inconsistent throughout the studies reviewed, likely due to variations in types of coconut oil supplementation and scarcity of trials. Further research is required both in animal models and in humans before coconut oil intake is widely advised and popularized. This is especially true in patients with diabetes, who are at increased risk of cardiovascular disease, and in whom reduction in saturated fat intake is advised.
Recurrent Thyroid Storm Caused by a Complete Hydatidiform Mole in a Perimenopausal Woman
Background. Gestational trophoblastic disease (GTD) which includes hydatidiform mole, invasive mole, placental site trophoblastic tumor, and choriocarcinoma is a rare cause of hyperthyroidism due to excess production of placental human chorionic gonadotrophin hormone (hCG) by tumor cells. Molecular mimicry between hCG and thyroid stimulating hormone (TSH) leads to continuous stimulation of TSH receptor by extremely high levels of hCG seen in these tumors. Consequently, biochemical and clinical hyperthyroidism ensues and it is potentially complicated by thyrotoxic crisis which is fatal unless urgent therapeutic steps are undertaken. Case Description. We present a 49-year-old perimenopausal woman who presented with recurrent thyroid storm and high output cardiac failure. The initial workup revealed suppressed TSH, high-free thyroxine (FT4), and free triiodothyronine (FT3) levels with increased vascularity of the normal-sized thyroid on ultrasonography. She was managed with parenteral beta blockers, steroids, and high-dose carbimazole. Her lower abdominal tenderness led to further investigations which revealed tremendously elevated beta-hCG and a snow storm appearance on transabdominal ultrasound suggestive of GTD. She underwent curative surgery and was diagnosed with complete hydatidiform mole postoperatively by histology. Conclusion. Recurrent thyroid crisis in gestational trophoblastic disease is an exceedingly rare presentation and that is highly fatal. This case highlights the importance of early detection and treatment of the etiology of thyrotoxicosis to eliminate mortality.
Delayed Diagnosis of Congenital Hypothyroidism in a Child with Trisomy 21 and Biotinidase Deficiency and Successful Use of Levothyroxine Sodium Oral Solution
Endocrine disorders are more common and appear earlier in people with trisomy 21 (T21) than in the general population, with thyroid dysfunction being the most common, including both congenital and acquired hypothyroidism. The treatment for biotinidase deficiency, a condition that occurs in approximately 1 : 110,000 people, is with biotin (vitamin B7) supplementation. However, biotin can interfere with endocrine laboratory assays and cause falsely low thyroid-stimulating hormone (TSH) and elevated free thyroxine (FT4) levels. This can interfere with the timely diagnosis and subsequent treatment of congenital hypothyroidism (CH). This case report describes an infant with partial biotinidase deficiency that was confirmed on day 10 of life. Routine screening erroneously reported “normal” TSH that caused delayed diagnosis of CH due to interference with the TSH assay from concurrent biotin use. Once the biotin treatment was withheld for 4 days and the thyroid function tests repeated, an elevated TSH became apparent. Treatment with tablet levothyroxine (L-T4) was started and subsequently changed to L-T4 oral solution (Tirosint®-SOL) to overcome treatment administration difficulties encountered with the tablet form. This resulted in improved TSH control due to more accurate and consistent dosing compared with the tablet formulation. This is the first report of the use of L-T4 oral solution in an infant with T21 and biotinidase deficiency.