Case Reports in Endocrinology最新文献

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.

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.

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.

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.

Hyperthyroidism commonly causes tachyarrhythmias such as sinus tachycardia and atrial fibrillation. Impaired atrioventricular conduction is a very rare complication of hyperthyroidism. We report a case of a patient with hyperthyroidism due to Graves' disease presenting with syncope and complete atrioventricular block. Because lack of awareness of atypical presentation in patients with hyperthyroidism may delay diagnosis and treatment, the recognition that hyperthyroidism can be one of the reversible causes of complete atrioventricular block is important.

Adrenal collision tumors are rare and produce unique diagnostic challenges for clinicians. We report the case of a 45-year-old woman with obesity and diabetes mellitus and an incidentally-discovered adrenal mass containing macroscopic fat, thought to be a myelolipoma. A functional workup confirmed adrenocorticotropic hormone- (ACTH-) independent Cushing's syndrome. The patient underwent a successful laparoscopic adrenalectomy with pathology showing an adrenal collision tumor consisting of an adrenocortical adenoma and a myelolipoma. Postoperatively, the clinical symptoms, body mass index, and hemoglobin A1C all improved. Clinicians should consider a functional workup in patients with radiographically diagnosed myelolipomas as some may prove to be hormonally active collision tumors.

Background. The shift of Graves' disease (GD) to Hashimoto's disease- (HD-) related hypothyroidism is well established. However, the opposite is rare. This is likely to the loss of critical thyroid mass available for stimulation by thyroid hormone receptor stimulating antibody, making this shift unusual. Herein, we report a young lady with a late shift from HD into GD and present a scoping literature review. Case presentation. We report a twenty-five-year-old lady with a sixteen-year-history of Hashimoto's-related hypothyroidism stable on levothyroxine. While following in the clinic, she started developing thyrotoxic symptoms in the form of anxiety, weight loss, and palpitation. Physical examination was remarkable for mild exophthalmos. The thyroid function test confirmed hyperthyroidism. Levothyroxine-induced hyperthyroidism was initially suspected; however, the symptoms did not improve despite reducing and stopping levothyroxine. Subsequent workup confirmed the diagnosis of GD. Discussion and Conclusion. This case highlights a unique association that has significant diagnostic and management implications. This shift should be considered when hyperthyroidism persists despite reducing or stopping levothyroxine. The diagnosis is made utilizing antibody titers and radioiodine update scan. While the management depends on the disease's stage and the treating physician preference, antithyroid agents can be used initially. Following up these patients is essential as the shift can be transient.

Introduction: Sheehan syndrome presents with features of multiple hormone deficiencies including lactation failure and amenorrhoea as well as with features of central hypothyroidism and adrenocorticotropic hormone deficiency. Psychiatric manifestations are mostly limited to cognitive impairment. Psychotic presentations are rare and limited to case reports. Case Presentation. A 32-year-old female was evaluated for fearfulness and delusions for one year. She had persecutory and bizarre delusions, delusion of thought possession, and elementary auditory hallucinations. These began four months after the birth of her third child. The delivery had been complicated with postpartum haemorrhage. Her symptoms caused the functional decline and progressively worsened, resulting in suicidal ideation. Cognitive assessment revealed mild impairment in attention. Further inquiry revealed lethargy, constipation, cold intolerance, and lactation failure. She was slow, having dry skin, puffy face, and bradycardia with a blood pressure of 80/60 mmHg (supine) and 70/50 mmHg (standing). She had hyponatraemia, elevated creatine phosphokinase, low thyroxine, prolactin, FSH, LH, and IGF-1. She had poor cortisol and growth hormone response to the insulin tolerance test. MRI-pituitary showed empty sella. A diagnosis of Sheehan syndrome was made. Her symptoms improved completely after the initiation of levothyroxine and hydrocortisone.

Conclusions: Sheehan syndrome can present with psychotic symptoms mimicking schizophrenia with variable involvement of cognition. Detailed reporting of these patients would enhance better characterization of the clinical presentation and risk profile of these patients.

Introduction: Parathyroid carcinoma is one of the rarest cancers in normal population, and it is extremely uncommon in the setting of tertiary hyperparathyroidism. Indeed, only 24 cases have been reported in the literature. Presentation of the Case. We report the case of parathyroid carcinoma in a 51-year-old man, with a history of end-stage renal disease due to a horseshoe kidney treated with haemodialysis since 2013. He came to our attention due to an increase in calcium and parathyroid hormone serum levels. Neck ultrasound (US) showed a solid hypodense mass, probably the right inferior parathyroid gland, with an estimated size of 25 × 15 × 13 mm; the 99mTc-sestamibi SPECT/CT scan revealed a large radiotracer activity area in the right cervical region, compatible with a hyperfunctioning right inferior parathyroid gland. So, a tertiary hyperparathyroidism diagnosis was made. In April 2018, resection of three parathyroid glands was performed. Histopathological examination demonstrated the right inferior parathyroid gland specimen to be a parathyroid carcinoma, due to the presence of multiple, full-thickness, capsular infiltration foci, and a venous vascular invasion focus. Discussion. Diagnosis of parathyroid carcinoma in tertiary hyperparathyroidism is remarkably complex because of the lack of clinical diagnostic criteria and, in many cases, is made postoperatively at histopathological examination.

Conclusion: To date, radical surgery represents the mainstay of treatment, with a five- and ten-year survival rates overall acceptable.

Background: Polycystic ovary syndrome (PCOS) is a common endocrine disorder with heterogeneous etiology. Typical features consist of oligo/anovulation, polycystic ovaries, and features of hyperandrogenism. Pathogenesis is multifactorial, and positive family history may have a predisposition for disease development. The syndrome is associated with multiple metabolic and nonmetabolic entities. As the disease is involved with multiple adverse outcomes, the successful treatment is pivotal. Among the more advanced options, the unilateral oophorectomy is considered as a last resort to alleviate the symptoms. Case Presentation. A 29-year-old female presented to us with oligomenorrhea, severe hirsutism, androgenic pattern hair loss, acne, increased skin pigmentation, and secondary subfertility. On examination, she was obese with a body mass index (BMI) of 29.6 kg/m². She had evidence of acanthosis nigricans, androgenic pattern balding, acne, dorsal, supraclavicular fat deposition, and moderate-severe hirsutism. Investigations confirmed excess right ovarian testosterone secretion which led to the ultimate management with right oophorectomy with successful alleviation of clinical features.

Conclusions: The multifaceted medical treatment comprises the first-line therapy in PCOS. Surgery is considered as a second-line option in resistant PCOS following failure of initial therapeutic options. We report a case of resistant polycystic ovary syndrome with secondary subfertility and moderate-to-severe hirsutism who was successfully treated with unilateral oophorectomy with favorable results.