Endocrinology, Diabetes and Metabolism Case Reports最新文献

Summary: Iatrogenic Cushing syndrome caused by topical corticosteroid preparations is only reported in infants. We describe a case in a patient with obsessive-compulsive disorder: the patient had tic disorder and obsessive-compulsive disorder, and the condition was under stable control. After the appearance of oral ulcers, the patient uncontrollably used a large amount of chlorhexidine dexamethasone membranes, resulting in iatrogenic Cushing syndrome. The fatty liver and abnormal liver function associated with Cushing syndrome led to the discontinuation of fluvoxamine and aripiprazole for obsessive-compulsive disorder. The patient's tic and compulsive symptoms worsened, and he repeatedly bit his tongue. Under multidisciplinary diagnosis and treatment in emergency department, endocrinology department, psychological department, and dentistry department, both the mental and physical symptoms were controlled and the patient's prognosis was satisfactory. Genetic testing revealed no clear abnormalities that could explain the patient's phenotype. Therefore, medication use on obsessive-compulsive disorder patients with somatic diseases should be monitored. Multidisciplinary cooperation, especially consultation liaison psychiatry in general hospitals, is essential for the diagnosis and treatment of patients with both physical and mental symptoms in general hospitals.

Learning points: It is necessary to monitor medication use when treating OCD patients with somatic diseases. Multidisciplinary diagnosis and treatment in general hospitals are advantageous or even the only option for improving the prognosis of comorbid mental disorders and somatic diseases. Consultation liaison with psychiatry should be strengthened in general hospitals, especially in the diagnosis and treatment of diseases that are often complicated with psychological symptoms, such as in the endocrinology department.

Summary: This case report describes an 84-year-old male patient who presented with symptoms of intestinal obstruction and was subsequently diagnosed with metastatic adrenocortical carcinoma (ACC), a rare and aggressive endocrine malignancy. The patient arrived at the emergency department with abdominal pain, nausea, vomiting, and bloating. Imaging studies revealed a segmental ileal mass suggestive of obstruction and a large (12 × 8 cm) adrenal mass. Hormonal assays indicated a nonfunctional adrenal incidentaloma. Due to persistent obstruction, the patient underwent surgical resection of the terminal ileum and a left adrenalectomy. Histopathological examination confirmed ACC with metastasis to the small intestine. This rare presentation is notable because ACC typically manifests with hormone excess or mass effect symptoms, and intestinal metastasis causing mechanical obstruction is exceedingly uncommon. Radiologically, the adrenal mass lacked classic features of ACC, contributing to initial diagnostic uncertainty. Postoperatively, the patient recovered uneventfully and was started on mitotane therapy after PET imaging confirmed residual disease and para-aortic lymph node metastasis. This report underscores the importance of thorough evaluation of large adrenal incidentalomas, even if nonfunctional, and highlights intestinal obstruction as a rare but possible initial presentation of metastatic ACC. It contributes to the limited literature documenting atypical clinical manifestations of this rare tumor.

Learning points: Adrenocortical carcinoma (ACC) is a rare and aggressive malignancy that is frequently diagnosed at an advanced or metastatic stage. Nonfunctional adrenal incidentalomas ≥4 cm in size warrant comprehensive hormonal evaluation and imaging, followed by multidisciplinary assessment due to the potential risk of malignancy. In this case, despite benign-appearing radiological features, histopathological examination confirmed that the adrenal mass was a metastatic adrenocortical carcinoma. R0 resection remains the only potentially curative treatment for ACC; in selected cases, synchronous resection of metastatic lesions may be necessary. This case highlights a previously undocumented presentation of ACC manifesting as small bowel obstruction due to intestinal metastasis, thereby expanding the clinical spectrum of this rare entity.

Summary: Medullary thyroid carcinoma (MTC) constitutes 5-10% of thyroid malignancies but accounts for 15% of thyroid cancer-related mortality. Twenty percent of MTC are hereditary and are part of familial MTC or multiple endocrine neoplasia (MEN) syndromes. Classical MTC presents as a nodular goiter with or without lymphadenopathy, or occasionally diarrhea and metastatic symptoms. Several patients in our cohort had unusual features that delayed diagnosis. The standard management remains surgical resection, with tyrosine kinase inhibitors (TKIs) in RET mutation-positive or RET mutation-negative metastatic cases and/or Lutathera peptide receptor radionuclide therapy (PRRT) used in disseminated disease, and external beam radiotherapy for locally aggressive or infiltrative retaining a limited role. However, some patients developed therapy-related complications or exhibited resistance to treatment. Of the 80 MTC patients reviewed, this case series highlights 10 atypical presentations in nine cases : 3 unusual tumors along with MTC, namely chondrosarcoma, carcinoma prostrate, and ectopic Cushing's syndrome; 4 unusual associations or presenting manifestations: pneumoconiosis masquerading as lung metastasis, Marfanoid habitus in MEN-2A and VHL spectrum disease, 1 with skull metastasis, and 2 cases with TKI-related complications in the form of glomerulonephritis and one patient displayed Marfanoid habitus with a RET mutation but without MEN2B or fibrillin gene mutation, while another developed bowel perforation secondary to lenvatinib therapy emphasizing diagnostic and therapeutic challenges and rare tumor associations. This series underscores the heterogeneity of MTC and the need for thorough evaluation and personalized management. Greater clinician awareness of MTC's diverse presentations is essential to improve early diagnosis and optimize treatment outcomes.

Learning points: Diverse and atypical clinical presentations can obscure the diagnosis of MTC. Management of MTC remains complex due to therapy-related complications and resistance. Molecular diagnostics enable better risk stratification and personalized care.

Summary: RFX6 maturity-onset diabetes of the young (RFX6-MODY) is a relatively new MODY subtype, with limited guidance on management, particularly in pregnancy. We report the clinical features and management of two female patients with RFX6-MODY and their progression during and post-pregnancy. These patients were diagnosed with type 2 diabetes mellitus (DM) at ages 13 and 19 years, initially managed on dietary modification alone. They were subsequently diagnosed with RFX6-MODY during pregnancy following calculation of MODY probability. Both required insulin during pregnancy and delivered healthy babies at 38 weeks. Three months post-delivery, tirzepatide was started for one of our patients and she has shown significant glycaemic improvement and weight loss. To our knowledge, this is the first reported use of tirzepatide in RFX6-MODY.

Learning points: RFX6-MODY may present at a much earlier age than previously reported in the literature. Many patients with RFX6-MODY do not appear to require insulin at diagnosis. Tirzepatide may be a beneficial therapeutic option for managing patients with RFX6-MODY who have adequate β-cell function. Pregnancy management in patients with RFX6-MODY is similar to type 2 DM, although higher insulin doses may be required.

Summary: Papillary thyroid carcinoma (PTC) is the most frequent type of differentiated thyroid cancer, while thyroglossal duct cysts (TGDCs) are common congenital anomalies of the neck. The coexistence of PTC within a TGDC is exceptionally rare, with a reported incidence of less than 1.5%. We present three Peruvian cases of PTC arising in TGDCs. The patients (two females and one male; age range: 34-47 years) presented with progressive midline cervical masses of two to four years' duration. All underwent cervical ultrasound, contrast-enhanced computed tomography, and fine-needle aspiration biopsy. Histopathology confirmed PTC, including classical and follicular variants. Surgical management varied: two patients underwent Sistrunk procedure alone, while one required Sistrunk surgery followed by total thyroidectomy, cervical lymph node dissection, and radioactive iodine (RAI) therapy. All patients remain disease-free after 6-12 years of follow-up. The diagnosis of carcinoma in TGDC is often incidental, but preoperative imaging and cytology can raise suspicion. Optimal management remains controversial; while the Sistrunk procedure may be sufficient in most cases of PTC confined to TGDC without extracapsular extension, in some scenarios, such as the presence of suspicious thyroid nodules, extracystic extension, and cervical lymph node metastasis, an additional thyroidectomy and RAI therapy may be warranted. In conclusion, PTC in TGDC is a rare entity with generally favorable prognosis. Early recognition, individualized treatment, and multidisciplinary decision-making are essential for optimal outcomes.

Learning points: Suspect malignancy in any persistent or enlarging midline neck mass, especially when imaging shows solid components or calcifications. FNAB may have variable diagnostic yield in cystic lesions due to low cellularity; accuracy can be improved by aspirating cystic contents first or targeting the solid components of the cyst. Treat with the Sistrunk procedure, adding total thyroidectomy and/or radioiodine based on oncologic risk and nodal involvement. Expect a generally favorable prognosis, but maintain long-term surveillance given the (low) risk of recurrence. Guidelines regarding management of thyroglossal duct cyst cancer have recently been included within ATA 2025 thyroid cancer guidelines.

Summary: Panhypopituitarism, characterized by multiple pituitary hormone deficiencies, is most often diagnosed in infancy or early childhood with adolescent presentation being uncommon. We present a 12-year-old female with late-onset panhypopituitarism presenting with short stature and concomitant bilateral distal arthrogryposis. Her height at presentation was 140.7 cm (6th percentile) with a growth velocity of 0.75 cm/year, Tanner stage 1, bone age consistent with chronological age, and predicted adult height of approximately 152.4 cm despite a mid-parental target near 167.6 cm. Laboratory testing supported growth hormone (GH) deficiency, central hypothyroidism, and adrenal insufficiency, with stimulation tests being subnormal. MRI showed hypoplasia of the anterior pituitary, an absent infundibulum, and an ectopic posterior pituitary, consistent with pituitary stalk interruption syndrome. Hydrocortisone (9 mg/m2/day) and levothyroxine (37.5 μg daily) were first initiated. Although GH was initially deferred due to concerns about worsening preexisting distal hand contractures, the family elected to begin weekly subcutaneous lonapegsomatropin-tcgd (Skytrofa, 7.6 mg, 0.24 mg/kg/week). At 3 months, the growth velocity increased to 8.7 cm/year with early breast development, and at 6 months, it reached 17.4 cm/year, bone age remained concordant with chronological age, and predicted adult height improved to approximately 162.6 cm. By 10 months, height percentile rose to the 12th percentile and Tanner stage 2 breast development was observed. Throughout treatment, there were no reported or observed changes in distal arthrogryposis hand contractures. This case report highlights that initiation of GH therapy may lead to a significant growth improvement without aggravating arthrogryposis-related contractures.

Learning points: To report the rare co-occurrence of arthrogryposis and panhypopituitarism and discuss management. Distal arthrogryposis coexisting with GH deficiency did not worsen with GH therapy in this patient, supporting individualized risk-benefit analysis. Shared decision making is key when theoretical risks (e.g. joint symptoms) are weighed against the consequences of untreated GH deficiency.

Summary: Apparent mineralocorticoid excess (AME) syndrome is a rare condition caused by the inhibition of the renal enzyme 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2). The most common acquired cause is chronic liquorice ingestion. We report the case of a 61-year-old woman who developed profound hypokalaemia, metabolic alkalosis, and QT prolongation due to excessive liquorice tea consumption. This case underscores the importance of detailed dietary history in patients with unexplained electrolyte disturbances and demonstrates the potentially fatal cardiovascular consequences of a widely available herbal remedy.

Learning points: Hypokalaemia may present subtly but can carry life-threatening risks. Apparent mineralocorticoid excess should be considered in patients with resistant hypokalaemia and unexplained hypertension. A thorough dietary and over-the-counter medication history is essential in the evaluation of electrolyte disorders. Liquorice, although natural, can exert potent physiological effects with severe clinical consequences.

Summary: A 70-year-old woman with Hashimoto thyroiditis, treated with levothyroxine, was diagnosed with rheumatoid arthritis 1 year prior and subsequently began methotrexate (MTX) therapy. She presented with a 2-week history of progressive, painless anterior neck swelling. Ultrasonography (US) revealed diffuse thyroid enlargement with heterogeneously decreased echogenicity, and laboratory tests showed an elevated thyroid stimulating hormone (TSH) level of 63.6 mIU/L. A core needle biopsy confirmed the presence of mucosa-associated lymphoid tissue (MALT) lymphoma. Given her MTX therapy, MTX-associated lymphoproliferative disorder (MTX-LPD) was strongly suspected. Accordingly, MTX was discontinued, and her levothyroxine dosage was increased. Serial US examinations subsequently demonstrated a gradual reduction in thyroid size, and this progressive regression ultimately confirmed the diagnosis of MTX-LPD. Although MTX-LPD is a recognized complication of MTX therapy in rheumatoid arthritis, its primary occurrence in the thyroid is rare. In previous reports, primary thyroid lymphoma was either diagnosed in patients with a preexisting diagnosis of Hashimoto thyroiditis or concurrently with it. However, in our case, she already had Hashimoto thyroiditis, and the onset of MTX-LPD was accompanied by a worsening of hypothyroidism. Most patients with MTX-LPD achieve remission following MTX withdrawal. This rare case documents the natural improvement of diffuse ultrasonographic findings in thyroid MTX-LPD, highlighting the usefulness of serial ultrasonographic monitoring in patient follow-up.

Learning points: Patients receiving MTX therapy may develop MTX-LPD involving the thyroid gland. Thyroid MTX-LPD may present with concomitant worsening of hypothyroidism. Ultrasonographic findings in thyroid MTX-LPD can occasionally include diffuse thyroid enlargement. MALT lymphoma may occur as the histological subtype in primary thyroid MTX-LPD. MTX-LPD is expected to regress following discontinuation of MTX. Serial ultrasonographic monitoring of thyroid size can serve as an effective guide for assessing MTX-LPD regression.

Summary: Small clinically silent phaeochromocytoma (PCC) can be identified in modern clinical practice as apparent adrenal incidentaloma or during screening of patients with familial tumour syndromes. Composite tumours comprising both PCC and a second tissue sharing embryological origin from the neural crest are rare, with fewer than 140 cases described in the literature. We report a 62-year-old woman with a 15 cm adrenal mass that was incidentally discovered on pulmonary imaging. A second 7 cm pelvic mass was also identified. The patient had no symptoms of catecholamine excess and normal blood pressure, even during a biopsy of the adrenal mass. Concordantly, urinary catecholamines were normal; however, urinary metanephrine and normetanephrine excretion were 23-fold and nine-fold the upper limit of normal, respectively. Surgical resection resulted in normalisation of metanephrines and normetanephrines. Histopathology showed a composite PCC/ganglioneuroma with discrete areas of both tumours within the same mass. Later resection of the pelvic mass revealed an unrelated ovarian teratoma. This case demonstrates a novel presentation of a composite PCC/ganglioneuroma and the presumptive role of catechol-O-methyltransferase in inactivating catecholamines within PCC, resulting in undetected growth of the tumour to a giant size. It highlights that metanephrines and normetanephrines are the preferred investigation for PCC.

Learning points: Clinically silent PCC are increasingly common but are typically small, with relatively low levels of metanephrines. Upregulation of COMT causes intratumoural inactivation of catecholamines and may facilitate asymptomatic growth of PCC to a giant size. Measurement of metanephrine and normetanephrine levels in plasma or urine is the preferred biochemical investigation for PCC. Composite PCC are rare but have a similar clinical presentation and management to other PCC.