JCEM case reports最新文献

Pituitary gigantism (PG) is a rare endocrine disorder that may present with multiple pituitary hormone abnormalities in pediatric patients. A hallmark presentation is accelerated growth due to growth hormone (GH) excess. Current treatment modalities include surgery, radiation, and medical therapy. We describe a 14-year-old girl who presented with recurrent slipped capital femoral epiphysis with GH excess and multiple other hormonal abnormalities. A sellar mass was identified on magnetic resonance imaging of the brain and was surgically resected. The pathology report was consistent with pituitary gland adenoma with mammosomatotrophs hyperplasia. Post surgery, serial laboratory results showed persistently elevated growth factor and GH levels, and residual tumor was reported on follow-up imaging. Even though we found limited data on the efficacy and safety of a long-acting somatostatin analogue, lanreotide, in the treatment of PG, a total of 4 doses of lanreotide successfully reduced growth factor and GH levels to normal ranges in our patient. Repeat imaging 5 weeks post discontinuation of lanreotide showed reduction of residual tumor volume. This case reveals that a short course of lanreotide may be used as an effective medical treatment in pediatric patients with PG who have residual disease after surgical intervention.

Primary malignant lymphomas originating in the adrenal gland, particularly of T-cell origin, are extremely rare. Here we present the primary unilateral adrenal anaplastic large cell lymphoma case. A 64-year-old Japanese male initially presented with fatigue and appetite loss. Computed tomography imaging revealed a unilateral adrenal mass with multiorgan invasion, posing challenges in differentiation from adrenal carcinoma. A biopsy from the metastatic site in the right lateral vastus muscle was obtained, and immunohistochemistry revealed that tumor cells were positive for CD30 and CD56 and negative for CD3, CD15, CD20, CD43, perforin, granzyme B, epithelial membrane antigen, and anaplastic lymphoma kinase. Ultimately, the patient was diagnosed with primary unilateral adrenal anaplastic large cell lymphoma. Although he achieved complete response to chemotherapy, he died 4 months after complete response due to cholecystitis and lymphoma recurrence.

A 49-year-old woman presented with irregular menstrual bleeding, elevated estradiol (E2) (665 pg/mL [2441.21 pmol/L]) (reference range [RR]: menstrual period [MP] 20-50 pg/mL; 73.42-183.55 pmol/L), unsuppressed follicle-stimulating hormone (FSH) (19.3 mIU/mL [19.3 IU/L]) (RR: MP 3.5-10.0 mIU/mL; 3.5-10.0 IU/L), and cystic ovarian enlargement (right ovary, 109 mL; left ovary, 146 mL). A 7-mm pituitary microadenoma was also observed, and 6 months after referral, endoscopic transsphenoidal surgery was performed, resulting in a diagnosis of FSH-producing pituitary adenoma. Nine months postoperatively, the ovarian cysts had markedly shrunk. Although FSH-producing pituitary adenomas are rare, approximately 64% of nonfunctioning pituitary adenomas are positive for gonadotropin immunostaining. FSH-producing pituitary adenomas are often endocrinologically silent, with symptoms typically triggered by pituitary tumor enlargement. Early diagnosis can be facilitated by measuring FSH and E2 levels in cases of irregular vaginal bleeding, abnormal menstruation, ovarian enlargement, ovarian hyperstimulation syndrome, or infertility. If E2 is elevated but FSH is not suppressed, pituitary magnetic resonance imaging should be performed to identify FSH-producing pituitary adenomas. In cases of FSH-producing pituitary adenomas, including microadenomas, symptoms may improve after tumor resection, making surgery the preferred treatment option.

The widespread use of statins for cardiovascular diseases has unveiled a new subset of inflammatory myopathy, immune-mediated necrotizing myopathy (IMNM). We describe below an unusual case of anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) myopathy. A 64-year-old male individual with type 2 diabetes, hyperlipidemia, and coronary artery disease presented with progressive proximal muscle weakness and pain for 3 months. He took atorvastatin 40 mg for 4 years, which was discontinued due to elevated liver enzymes and resumed treatment with rosuvastatin 5 mg later due to worsening hyperlipidemia. Physical examination showed significant weakness of the hip, shoulder girdle, and biceps/triceps. Creatinine kinase (CK) was found to be 232.48 µkat/L (13 921 IU/L) (normal: 0.833-5.133 µkat/L; 50-308 IU/L). Electromyography and left vastus lateralis muscle biopsy showed findings of myonecrosis. Anti-HMGCR assay was strongly positive with antibodies > 200 chemiluminescent units (CU) (normal: 0-20 CU). He was started on prednisone followed by human-immunoglobulin (IVIG) which led to a decline in CK. Statin-induced necrotizing autoimmune myopathy (SINAM) is an exceptionally rare side effect of statins. Although statins come with a good side-effect profile, one should be aware of marked, persistent elevations in muscle enzyme levels. Prompt confirmation with antibody levels, drug discontinuation, and early initiation of immunosuppression can lead to good outcomes.

Hyperinsulinemic hypoglycemias resulting from variants in the insulin receptor (INSR) gene are rare but clinically important disorders. We present a male patient in his 30s, experiencing recurrent postprandial hypoglycemic events. Endocrine evaluation revealed an elevated insulin-to-C-peptide ratio. A hypoglycemia gene panel, using next-generation sequencing, identified a heterozygous nonsense variant in the INSR gene (NM_000208.4) c.3079C > T, p.(Arg1027*). Initial treatment with diazoxide reduced hypoglycemic symptoms and led to weight loss and decreased hemoglobin A1c due to reduced compensatory carbohydrate intake. However, limiting side effects on diazoxide prompted a treatment switch to lanreotide with maintained absence of hypoglycemic events. This case highlights the importance of considering variants in the INSR gene as a differential diagnosis in hyperinsulinemic hypoglycemia cases, even in adults.

Struma ovarii (SO) is a rare subtype of ovarian teratoma composed of more than 50% thyroid tissue. Extraovarian spread of SO, called peritoneal strumosis, was previously considered benign given the lack of histological malignant features. However, the 2020 World Health Organization Classification of Female Genital Tumors reclassified peritoneal strumosis as highly differentiated follicular carcinoma of ovarian origin (HDFCO), highlighting its low-grade malignant potential. We present a 38-year-old woman with SO treated initially with right salpingo-oophorectomy, with recurrence 2 years later with multifocal metastatic lesions in the abdomen and pelvis that was successfully treated with surgical resection, total thyroidectomy, and 157 mCi of I-131. Tumor molecular testing revealed a pathogenic DICER1 variant (c.5428G>T, exon 25). A second variant (c.319delins13, exon 4) was of uncertain significance. Germline testing confirmed the second DICER1 variant and also identified an increased risk variant in the APC gene (c.3920T>A). This is a rare case of extensive HFDCO with DICER1 variants, which has been associated with thyroid cancer. Given the germline DICER1 variant, this may also represent the first reported instance of DICER1 syndrome manifesting as HDFCO. Further research into the prognostic factors and optimal treatment of HFDCO is needed.

Congenital hyperinsulinism (CHI) is a rare hereditary disease characterized by the development of hypoglycemia in both infants and adult patients. CHI may be induced by activating mutations in the glucokinase (GCK) gene, which encodes the human glucokinase enzyme. This form of the disease is characterized by considerable phenotypic heterogeneity and may vary in severity of its course. We present a familial case report of mild CHI caused by a novel variant, c.212T > C (p.Val71Ala), in the GCK gene in a 41-year-old mother and a 15-year-old daughter. The clinical picture of hypoglycemia in the patients was not pronounced, which makes this clinical case remarkable. Moreover, a variant of uncertain clinical significance, с.1903G > A (p.Ala635Thr), in the ABCC8 gene was detected, which may also have contributed to the course of the disease in these patients.

Tyrosine kinase inhibitors (TKIs) are being used more regularly in treatment regimens for pediatric cancers. They have distinct side effect profiles, including endocrinopathies. Here we present a 2-year-old boy with Philadelphia chromosome-like (Ph-like) B-cell acute lymphoblastic leukemia (ALL) who developed refractory hypoglycemia after using dasatinib. His evaluation was suggestive of hyperinsulinism, and his symptoms were ultimately controlled with diazoxide. There have not been any published data exploring the relationship between TKIs and glycemic profiles in pediatric patients. In adults, there is research indicating that patients using TKIs could experience both hyperglycemia and hypoglycemia. The pathophysiology of these side effects is not well described, nor are the risk factors for development. More research is needed to understand these relationships in general, but particularly in the pediatric population.

Hypertrophic osteoarthropathy (HOA: MIM 167100)) is classified into primary and secondary types. Primary HOA, also known as pachydermoperiostosis (PDP), is a rare genetic condition with distinct clinical features including digital clubbing, skin thickening, and periostosis. Secondary HOA often occurs as a paraneoplastic syndrome or is associated with systemic diseases. In this report, we present a 17-year-old male patient who initially presented with significant digital clubbing, enlarged hands and feet, and excessive sweating. Although the initial suspected diagnosis was acromegaly, the patient's plasma level of insulin-like growth factor 1 was normal and growth hormone levels suppressed to <1 ng/dL following oral glucose tolerance test. Whole exome sequencing followed by Sanger sequencing of leukocyte deoxyribonucleic acid revealed a novel splicing variant in the 15-hydroxyprostaglandin dehydrogenase (HPGD) gene (NM_000860.6: c.662 + 5_662 + 8del). Reverse transcription polymerase chain reaction confirmed that this variant led to defective splicing with skipping of exon 6, a frameshift, and truncation at codon 13 of exon 7 downstream. His symptoms did not respond well to nonsteroidal anti-inflammatory drugs but showed excellent response to a trial of lanreotide autogel that has been used for about 1 year.