Case Reports in Endocrinology最新文献

Estrogen and growth hormone have been well established in the management of patients with Turner syndrome (TS) to improve linear growth, body composition, lipid profile, and bone mineral density. The use of testosterone therapy, however, has not been well studied in patients with TS. Furthermore, there is only one other known case report of an adult patient with TS seeking masculinizing therapy. We present an adolescent with mosaicism 45X/46XX who successfully underwent masculinizing therapy and is thriving as a young adult transgender male. This case highlights the benefits of gender affirming care despite the challenges of treatment in a population not previously described.

We encountered a case of Graves' disease in a pediatric patient who presented with thyroid storm (TS), the onset of which was triggered by rotavirus infection. Rotavirus is commonly associated with severe watery diarrhea, vomiting, fever, and dehydration-particularly in infants and young children. In more severe cases, it can also lead to altered consciousness and seizures. These symptoms can resemble those of TS, even in the absence of pre-existing hyperthyroidism. In cases of hyperthyroidism, these symptoms confirm the criteria for TS. Therefore, it is possible that some cases of TS are triggered and caused by gastrointestinal conditions such as rotavirus infection. Our case highlights the need for further investigation into the potential triggering pathogens in patients with TS to better clarify details regarding the patient's status or disease pathogenesis.

Prolactinoma is the most common pituitary tumor, with clinical presentations varying according to sex, age of onset, tumor size, and prolactin (PRL) levels. These tumors are rare in the pediatric and adolescent populations. Hyperprolactinemia leads to hypogonadotropic hypogonadism, resulting in reproductive, metabolic, sexual, and skeletal consequences that can affect puberty development. Here, we present the case of a 23-year-old male patient diagnosed with arrested puberty secondary to a macroprolactinoma. The clinical presentation, diagnostic approach, therapeutic management, and a literature review are discussed.

Background: Severe hypertriglyceridemia (triglycerides (TGs) >1000 mg/dL, >11.3 mmol/L) is a rare but potentially morbid condition in pregnancy. Physiological changes in pregnancy may unmask or exacerbate an underlying defect in TG metabolism. When conventional therapies are ineffective in controlling TG levels, a personalized management approach is needed. We present a case of severe hypertriglyceridemic pancreatitis successfully managed with niacin, a treatment that has seen limited use in pregnancy due to the paucity of available data. Case Presentation: A 29-year-old pregnant woman with a history of cholecystectomy and a prepregnancy BMI of 30.6 kg/m² presented at 12 weeks' gestation with acute pancreatitis and severe hypertriglyceridemia (6900 mg/dL, 77.9 mmol/L). After initial management with intravenous (IV) fluids, insulin infusion, and a low-fat diet, her TG levels improved. However, she was readmitted at 23 weeks' gestation with recurrent hypertriglyceridemia (2872 mg/dL, 32.4 mmol/L), requiring a more aggressive insulin regimen. Despite various interventions, including omega-3 fatty acids (O3FAs), fenofibrate, and central venous catheter insulin infusion, her TG levels remained elevated, necessitating early delivery at 34 weeks' gestation. Her postpartum recovery included continued TG management with fenofibrate and O3FAs. Four years later, during a second pregnancy, she presented with similar hypertriglyceridemia, managed with diet, metformin, fenofibrate, and insulin. Due to persistent hypertriglyceridemia (>3000 mg/dL, 33.9 mmol/L), niacin was added as an additional therapy and titrated to 2000 mg/day, which successfully sustained TG levels below 1000 mg/dL (11.3 mmol/L) through the remainder of her pregnancy. She delivered her second child via cesarean section at 35 weeks' gestation due to preeclampsia. Both children had developmental issues, with her first child diagnosed with attention-deficient hyperactivity disorder (ADHD) and her second child with autism spectrum disorder and motor delays. The patient was encouraged to remain on long-term management for her metabolic condition. Conclusions: Managing severe hypertriglyceridemia during pregnancy is challenging due to uncertainties about treatment efficacy and safety. Timely reduction of maternal TGs is essential to prevent complications and requires adjustments throughout pregnancy. This case demonstrates the effectiveness and safety of niacin, often underutilized due to perceived side effects, in managing severe hypertriglyceridemia in pregnancy when other treatments were inadequate.

Objective: To present a rare diagnosis of polycystic ovary syndrome (PCOS) after initial suspicion of malignancy. PCOS is a common endocrine disorder in adolescence characterized by hyperandrogenism and polycystic ovaries. Case Presentation: A 13-year-old female patient was referred for a giant mass noted on examination for metrorrhagia. She had previously presented for hirsutism and acne, treated independently. A multicystic abdominal tumor measuring 21 × 17 × 9 cm was identified, with a nodular image and negative tumor markers, but elevated testosterone and LH/FSH ratio. Therefore, video-assisted ovarian cystectomy was performed. Finally, the patient was diagnosed with PCOS and began hormonal therapy, with improvement of hyperandrogenism. Conclusion: In adolescents with large ovarian cysts, in addition to ruling out malignant neoplasms, PCOS should be considered as these may have similar clinical and radiological presentations.

Background: Familial hypocalciuric hypercalcemia type 3 (FHH3) is a rare hereditary disorder caused by a heterozygous AP2S1 gene mutation, characterized by hypocalciuria and hypercalcemia due to impaired intracellular signal transduction of calcium (Ca)-sensing receptors (CaSRs). All affected patients harbored a heterozygous missense mutation at the Arg15 residue of the encoded AP2σ1. Case Presentation: A 21-year-old female was referred to our hospital with hypercalcemia and reduced bone mineral density (BMD) detected during a preoperative examination for scoliosis surgery. She had a developmental disorder and exhibited hypocalciuria on urinalysis. Genetic testing revealed a heterozygous AP2S1 gene mutation (p.Arg15Leu), and the patient was diagnosed with FHH3. In the present case, we investigated the effects of evocalcet, a newly approved CaSR agonist. Treatment with evocalcet gradually decreased and normalized the serum Ca level, and promoted improvements in bone metabolism, without serious adverse events. Conclusion: Evocalcet may be a promising therapeutic candidate for symptomatic FHH3.

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.