Case Reports in Endocrinology最新文献

Graves' disease (GD) and gestational transient thyrotoxicosis (GTT) are the most common causes of thyrotoxicosis during pregnancy, with prevalence ranging from 0.1% to 1% and from 1% to 3%, respectively. Hyperthyroidism during pregnancy can have severe consequences if not promptly recognized and treated. Even more severe, if possible, is the thyroid storm, a life-threatening complication of hyperthyroidism, characterized by severe and dramatic clinical manifestations of thyrotoxicosis. No prior history of thyroid disease, absence of GD stigmata, negative thyrotropin (TSH) receptor antibody levels, serum human chorionic gonadotropin (hCG) higher on average, and symptoms of emesis may lead to the diagnosis of GTT. Few cases of thyroid storm during pregnancy are reported in literature, mainly due to gestational trophoblastic disease. We report a rare and severe case of thyroid storm in a 24-year-old woman at 15 weeks' gestation with twins, likely due to GTT, precipitated by acute myocarditis. Initially presenting with weakness, vomiting, and sinus tachycardia, the patient rapidly deteriorated into a life-threatening condition characterized by hypokalemia, myocardial injury, and severe thyrotoxicosis. Cardiac imaging later revealed acute myocarditis. Thyroid function stabilized at the end of the pregnancy, allowing discontinuation of methimazole. Both fetuses were delivered via emergency cesarean section at 36 weeks, with no significant congenital abnormalities. This case highlights the complexity of diagnosing and managing hyperthyroidism in twin pregnancies, particularly in the context of hyperemesis gravidarum (HG).

Prolactinomas are the most prevalent subtype of pituitary adenomas and represent one of the leading etiological factors responsible for amenorrhea and infertility in women. The primary therapeutic approach entails the use of dopamine agonists, which effectively restore fertility. In cases of microprolactinomas, the likelihood of experiencing a symptomatic enlargement of the tumor during pregnancy is exceptionally low, estimated at a mere 2.4%. Consequently, once pregnancy is successfully achieved, the administration of dopamine agonists is discontinued, with ongoing clinical monitoring of the patient's condition. The incidence of pituitary apoplexy during pregnancy is exceedingly rare. We present a case of a 29-year-old patient with microprolactinoma, treated with cabergoline, which was discontinued upon achieving pregnancy. However, at the 16th week of gestation, she presented with persistent headaches and compromised visual acuity, manifesting as left temporal hemianopia. A noncontrast magnetic resonance imaging (MRI) revealed an enlargement of the adenoma, accompanied by evidence of hemorrhage. She was referred to our hospital at 26 weeks of gestation. Cabergoline treatment was reinstated and well tolerated by the patient. Doses were increased to 2 mg per week because bitemporal hemianopia was not improving. A subsequent noncontrast MRI scan performed at 35 weeks of gestation demonstrated a further increase in adenoma size, measuring 17 × 21 × 13 mm, with signs of intratumoral bleeding. A planned cesarean section was performed at 39 weeks of gestation, without encountering maternal-fetal complications. Breastfeeding was not initiated due to the adenoma's compression of the chiasm. Accordingly, dopamine agonist therapy was continued. During the postpartum follow-up, the patient experienced a resumption of menstrual cycles, normalization of prolactin levels, and a reduction in tumor size. Ultimately, the diagnosis was established as a microprolactinoma, which had enlarged during pregnancy due to a pituitary tumor apoplexy. Although microprolactinomas typically carry a low risk of symptomatic tumor growth during pregnancy, this case emphasizes the critical importance of vigilant clinical monitoring to swiftly detect and manage this rare complication. This instance serves as an educational example of an uncommon event-a microprolactinoma experiencing apoplexy during pregnancy.

We report a case of successfully lateralized adrenal cortisol hypersecretion by adrenal venous sampling (AVS) and improved by surgery. AVS is a commonly used tool to guide surgical management of primary hyperaldosteronism. It can determine lateralization, leading to unilateral adrenalectomies of the correct side, or nonlateralization, which precludes surgery. The use of AVS in determining lateralization in hypercortisolism is a growing field of discussion. Currently, there is no defined or unanimous protocol behind procedural details and interpretation of results. In this report, we describe the AVS protocol at our institution for hypercortisolism, interpretation of the results, and corresponding surgical outcomes for a case of mild autonomous cortisol secretion.

Objectives: Describe the details of the clinical presentation, diagnostic challenges, and management of a female neonate with neonatal severe hyperparathyroidism (NSHPT). Methods: This case report was developed from a retrospective chart review. The female infant was born to consanguineous parents-first cousins, with multiple prenatal concerns, including gestational diabetes, intrauterine growth restriction, polyhydramnios, and suspicion of a hypoplastic left atrium on prenatal echocardiogram (ECHO). Following a planned C-section at 37 weeks gestation, the neonate exhibited moderate respiratory distress with subcostal retractions. On physical examination, craniotabes, a bell-shaped chest, and a continuous machinery-type murmur were noted. Results: Evaluation at birth revealed a large Patent Ductus Arteriosus and significant demineralization of skeletal structures with atypical rib morphology. Lab work at 24 h of life (HOL) showed elevated serum calcium level (14.3 mg/dL), ionized calcium-iCal (2.32 mmol/L), and normal 25-OH Vitamin D (54.2 ng/mL). A comprehensive skeletal survey uncovered generalized osteopenia, metaphyseal lucencies, and evidence of healing fractures. Repeat lab work at 43 HOL, showed serum calcium of 18.0 mg/dL, iCal 2.67 mmol/L, and elevated parathyroid hormone (PTH) of 2116 pg/mL. Diagnosis of NSHPT was established based on laboratory findings. Molecular testing confirmed a homozygous variant (c.1744T >A; p.Cys582Ser) in the calcium-sensing receptor (CaSR) gene which confirmed the diagnosis of NSHPT. NSHPT, a rare genetic disorder associated with high mortality rates, is often caused by inactivating CaSR gene variants. The patient's family history revealed a strong correlation with familial hypocalciuric hypercalcemia (FHH), a benign condition associated with asymptomatic hypercalcemia, normal to minimally elevated parathyroid level, and hypocalciuria, it is caused by heterozygous inactivating mutations in the CaSR gene. Treatment of NSHPT typically involves total or subtotal parathyroidectomy; however, initial medical intervention is often necessary. In this case, the neonate underwent medical treatment with calcitonin, furosemide to help facilitate renal clearance of calcium, and intravenous fluids before a successful parathyroidectomy. Conclusions: This case accentuates the importance of considering rare genetic disorders in neonates with complex clinical presentations and affirms the need for comprehensive counseling and education, particularly in consanguineous parents, to address familial implications and guide appropriate interventions.

We report a case of a 60-year-old lady with metastatic follicular thyroid carcinoma (FTC) who was presented with thyrotoxicosis and heart failure symptoms after total thyroidectomy. Clinical features and investigations led to the diagnosis of functional metastatic FTC with concomitant thyrotoxicosis. Levothyroxine therapy was stopped, and she was treated with propylthiouracil (PTU) followed by serial radioiodine treatments (RAITs) with good control of thyrotoxicosis and metastases. Despite having a very high disease burden with metastatic FTC, she has been able to maintain her functional status thus far, 4.5 years after initial diagnosis.

Background: The co-occurrence of medullary thyroid carcinoma (MTC) and papillary thyroid carcinoma (PTC) is thought to be a rare phenomenon. Here, we present a patient undergoing surgery due to a suspected MTC. Histopathological workup confirmed the suspected diagnosis but also described an incidental PTC in the contralateral lobe with lymph node metastasis in the central cervical compartment. Case Presentation: A 58-year-old female presented with thyroid nodules and significantly elevated levels of calcitonin and carcinoembryonic antigen (CEA). She underwent total thyroidectomy along with central and bilateral lymph node dissection. Histology revealed a MTC of 20 mm and a BRAF V600E-positive PTC of 11 mm with central cervical lymph node metastasis. Postoperatively, ablative radioiodine therapy was performed. Two months later, both calcitonin and CEA were normalized. Conclusion: Simultaneous occurrence of MTC and PTC seems to be rare, but recent literature suggests that simultaneous occurrence is probably more frequent than initially thought. Preoperative calcitonin can be helpful in the diagnostic workup of thyroid nodules. Due to different treatment strategies, precise histological differentiation of potential lymph node metastasis is essential.

Background/Objective: Myxedema coma typically presents with decreased level of consciousness and hypothermia, often due to thyroid pathology. In central causes, normal thyroid-stimulating hormone (TSH) levels may delay diagnosis. The purpose of this report is to describe a patient with a history of head trauma who presented with myxedema coma as a manifestation of panhypopituitarism. Case Report: The admitted patient was a 52-year-old man who presented with mental and physical slowness, drowsiness, and weakness. He also had hypotension, hypoglycemia, and low oxygen saturation. Initial evaluation revealed severe pericardial and bilateral pleural effusions, plasma TSH of 2.42 mU/L (normal range 0.25-5.00 mU/L), and plasma adrenocorticotropic hormone (ACTH) of 7.1 pg/mL (normal range 5.2-40.3 pg/mL). Later, his condition deteriorated with anasarca and coma. Signs of improvement were noted after intravenous corticosteroid administration. A subsequent blood test was conducted, which showed a free thyroxine (FT4) level of 0.14 ng/dL (normal range 0.93-1.70 ng/dL). A cranial magnetic resonance scan revealed posttraumatic lesions. The patient's family later admitted head injuries at home. Treatment with intravenous levothyroxine was initiated, resulting in improvement and subsequent discharge in perfect alertness. Conclusion: Hypopituitarism should be suspected in patients with head trauma and symptoms of hormone deficiency. Advanced clinical forms, such as myxedema coma, may also occur. Pituitary hormone levels might be in the normal range, so target gland hormones should be assessed to reach a diagnosis. In the case of suspected central hypothyroidism, requesting only TSH levels may result in a missed diagnosis. For this reason, both TSH and FT4 levels should be measured when central hypothyroidism is suspected.

Doege-Potter syndrome (DPS) is a very rare paraneoplastic condition that is marked by hypoglycemia brought on by a solitary fibrous tumor rather than an islet cell tumor. Soft tissue neoplasms termed as solitary fibrous tumors (SFTs) are rare and these tumors vary in the site of origin, from the pleural cavity, mediastinum, pericardium, retroperitoneal spaces, liver, thyroid, orbit, bladder, intestines, and soft tissues, while pelvic-derived fibrous tumors are incredibly unusual. There are currently extremely few documented cases and literature reviews both domestically and internationally. In this case study, we present an 82-year-old woman who developed DPS as a result of malignant pelvic SFTs. Her hypoglycemia was clinically healed after she underwent laparoscopic retroperitoneal tumor resection in our institution, and thereafter, her quality of life improved.

Myxedema coma is a rare life-threatening form of hypothyroidism that manifests as neuropsychiatric, metabolic, respiratory, and cardiovascular dysfunction. From 2010 to 2022, our hospital managed three cases of myxedema coma. While the overall characteristics of these cases were similar to those in previous reports, we noticed that all cases were negative for thyroid autoantibodies and an autopsy in one of the cases exhibited end-stage thyroiditis. During a systematic review of cases from 1999 to 2022, we also noticed that a significant proportion of myxedema coma was caused by seronegative primary hypothyroidism especially in Japan.

Acute hypertriglyceridemia-induced pancreatitis (HTGP) is an uncommon occurrence during pregnancy. Prompt diagnosis and initiation of treatment are indicated to prevent adverse maternal and neonatal outcomes. We present the case of a pregnant female who was diagnosed with HTGP at 34 weeks gestation and subsequently developed diabetic ketoacidosis (DKA) and preeclampsia with severe features. We describe the pathophysiology of acute HTGP and its relation to the gravid state and review available treatment options though data remains limited. Our case emphasizes the potential sequelae of HTGP in pregnancy, the need for a multidisciplinary approach for optimal care, and the importance of early treatment in improving maternal and neonatal outcomes.