BMC Endocrine Disorders

Uncommon adrenal rest tumors and massive adrenal enlargement in adult with congenital adrenal hyperplasia mimicking metastasis from pleomorphic sarcoma

Abstract Background Congenital adrenal hyperplasia (CAH) encompassed a bunch of autosomal recessive disorders characterized by impaired cortisol levels due to an enzymatic deficiency in steroid synthesis. In adult male patients with CAH, a frequent complication related to poor disease control is the development of ectopic adrenocortical tissue in the testes, named testicular adrenal rest tumors (TART). Conversely, ovarian adrenal rest tumors (OART) in females are extremely rare and adrenal rests in sites other than gonads are so uncommon to have been described only few times in literature. Case presentation We report a case of a male patient with untreated CAH and oncologic history of pleomorphic sarcoma who presented with massive bilateral adrenal enlargement and adrenal rest tumors in peri-lumbar and peri-cecal sites, which mimicked metastasis from sarcoma. Conclusions The development of massive adrenal enlargement and ectopic adrenal rest tumors in sites other than gonads, even if very uncommon, should be suspected in patients with CAH and prolonged periods of undertreatment.

Vulvar neuroendocrine carcinoma that is independent of merkel cell polyomavirus and human papillomavirus suggests endometrial cancer recurrence: a case report

Abstract Background Vulvar neuroendocrine carcinomas with small cell morphology need an appropriate differential diagnosis with respect to primary Merkel cell carcinomas, primary small cell neuroendocrine carcinomas, and secondary/metastatic carcinomas. Herein, we report a woman with a history of endometrial carcinoma led to neuroendocrine vulvar carcinoma. Case presentation An 82-y-old woman with right vulvar swelling was transferred to our hospital. Computed tomography scan showed a 75 mm irregular mass in her right vulva. Three years ago, she had been diagnosed with endometrial endometrioid carcinoma stage IA and had undergone surgery. Vulvar biopsy revealed neuroendocrine carcinomas with small cell morphology. Immunohistochemical staining showed that the vulvar tumor was positive for CD56 and chromogranin A, but negative for Merkel cell polyomavirus and cytokeratin 20. Incidentally, her endometrial carcinoma was also positive for CD56 and chromogranin A. Human papillomavirus DNA typing analysis of vulvar tumor was negative. Hence, the vulvar tumor seemed to be a recurrence of the endometrial cancer rather than a primary vulvar neuroendocrine carcinoma. The patient died of the disease within a month. Conclusion We report a case of vulvar neuroendocrine carcinoma that is independent of Merkel cell polyomavirus and human papillomavirus, thereby suggesting a recurrence of endometrial cancer. Immunohistochemical and virological analyses helped in the differential diagnosis of the neuroendocrine carcinoma.

Solitary vaginal paraganglioma with mature sacrococcygeal teratoma: a rare case report

Abstract Background Vaginal paraganglioma are rare, atypical, solitary tumors which originate from the female genital tract. Sacrococcygeal teratoma are also rare neoplasms which derive from one (or more) primordial germ cell layers. Here we report a unique case of vaginal paraganglioma with sacrococcygeal teratoma. Case presentation A 44-year-old female experienced paroxysmal hypertension, palpitations and dizziness for almost six years. Enhanced CT and MRI highlighted two abnormal soft tissue lesions located in the left vaginal wall and coccyx anteriorly, and Iodine-131 metaiodobenzylguanidine (131I-MIBG) demonstrated abnormal radioactive uptake in perineum area. Endocrine tests showed elevated plasma normetanephrine (NMN) and 24 h urine norepinephrine. There was a well-circumscribed soft tissue lesion of approximately 3.5 cm in the left lateral vaginal wall which could be palpated during bimanual examination, together with a 1.5 cm tumor in the posterior wall of the rectum. We completely resected the two lesions in stages with the support of a senior gynecologist and general surgeons. Postoperative histopathological examinations suggested the vaginal paraganglioma and mature sacrococcygeal teratoma. Targeted sanger sequencing for the 36 mostly common paraganglioma-related genes, with a depth of 1000x, revealed no mutations. Post-operatively, plasma NMN and 24 h urine norepinephrine returned to the normal range and her symptoms completely disappeared. Conclusions We reported an extremely rare case and the successful treatment of functional vaginal paraganglioma coexisting with adult sacrococcygeal teratoma.

Insulin-like growth factor-1 deficiency caused by hepatocellular adenoma leads to growth arrest, primary amenorrhea and metabolic syndrome: a case report and 4 years follow up

Thyroid metastases from cervical carcinoma: unusual implications for clinicians-case report

Thyroid metastases from uterine cervical carcinoma are exceedingly rare. Imaging examination and pathological detection exert a pivotal function in distinguishing between benign and malignant thyroid tumors, as well as differentiating metastases from primary thyroid cancer. Here, we present two cases of uterine cervical cancer metastasizing to the thyroid gland, confirmed by postoperative histopathology at our hospital. Furthermore, we conduct a comprehensive analysis of the imaging appearances, pathological characteristics, diagnosis, prognosis and treatment of the disease through a review of relevant literature. The two cases do not exhibit specific laboratory indicators, making imaging examinations important auxiliary tools, while pathology remains the gold standard for diagnosis. Although thyroid malignancies predominantly arise as primary tumors, it's crucial to consider the possibility of metastases in patients with a history of cancer. Metastases to the thyroid are relatively uncommon but can occur, particularly in advanced stages of other cancers. Poor outcomes of thyroid metastases from cervical carcinoma have presented significant hurdles for clinicians. Surgical excision of metastatic thyroid cancer may serve as an alternative, offering relief from compression symptoms and prolonging survival to some extent. Further studies are crucially needed to optimize clinical outcomes of the disease.

Elevated serum CA199 levels in patients suffering type 2 diabetes vs. various types of cancer

Abstract Aims Carbohydrate antigen 199 (CA199) is a standard tumor marker, and recent studies have found elevated in CA199 levels in patients with diabetes. However, there is no systematic measurement and comparison of serum CA199 levels in patients with diabetes and cancer. Here, a detailed description of the changes in serum CA199 levels in patients with type 2 diabetes and various cancers was explored. Methods A total of 5,641 participants were screened for clinical laboratory test results of serum CA199 levels over the past three years (2020–2023). This study included 2,464 healthy controls, 688 patients with type 2 diabetes, and 2,489 patients with 16 different types of cancer. Each type of cancer had more than 30 independent serum CA199 level test results. The serum CA199 levels were compared between cancer groups, type 2 diabetes patients, and healthy controls. Additionally, the CA199 levels of cancer patients were compared with those of patients with type 2 diabetes. Results The serum CA199 levels of esophagus cancer, lung cancer, pancreatic cancer, ovarian cancer, breast cancer, rectum cancer, prostate cancer, bladder cancer, liver cancer, gastric cancer, cervical cancer, colon cancer, lymphoma, thyroid cancer, intracranial tumors, and nasopharyngeal laryngeal cancer were found to be elevated compared to healthy controls (P < 0.01). In addition, the serum CA199 levels of patients with type 2 diabetes were also significantly elevated compared to healthy controls (P < 0.01). Moreover, the degree of elevation in serum CA199 levels in patients with type 2 diabetes was not significantly different from that observed in some types of cancer, such as esophagus cancer (P = 0.163), breast cancer (P = 0.927), prostate cancer (P = 1.000), bladder cancer (P = 0.406), Lymphoma (P = 0.975), thyroid cancer (P = 1.000), intracranial tumors (P = 0.161), nasopharyngeal and laryngeal cancer (P = 1.000). Conclusions Serum CA199 levels also increase in type 2 diabetes, and the magnitude of the increase is similar to that seen in some cancers.

Ovarian steroid cell tumors, not otherwise specified: analysis of nine cases with a literature review

Abstract Background Ovarian steroid cell tumors (SCTs), not otherwise specified (NOS), are rare, with few large studies. The purpose of this study was to analyze the clinical features, prognosis, and treatment choices for these patients of different age groups. Methods This was a retrospective study. We identified nine cases of ovarian steroid cell tumor, not otherwise specified, confirmed by post-operative histopathological examination, and analyzed clinical features, surgical procedures, and follow up outcomes. We also reviewed cases reports of ovarian steroid cell tumors, not otherwise specified. Results A total of nine cases were included. The age range was 9–68 years (mean, 41.89 ± 19.72 years). Clinical features included virilization, amenorrhea, abdominal pain, vaginal bleeding, isosexual precocious puberty, Cushing’s syndrome, and abnormal weight gain with elevated testosterone levels. The follow up interval ranged 5–53 months and no recurrence was observed. Conclusion Ovarian steroid cell tumors covered all age groups, with manifestations of androgen excess. Younger patients appeared to have a more favorable prognosis, which provided more opportunities for these patients to pursue treatment options that will preserve reproductive function.

Ovarian steroid cell tumor causing isosexual pseudoprecocious puberty in a young girl: an instructive case and literature review

Abstract Background Steroid cell tumors (SCTs) are very rare sex cord-stromal tumors and account only for less than 0.1% of ovarian neoplasms. SCTs might comprise diverse steroid-secreting cells; hence, the characteristic clinical features were affected by their propensity to secrete a variety of hormones rather than mass effect resulting in compression symptoms and signs. To date, ovarian SCTs have seldom been reported in children, particularly very young children; and pseudoprecocious puberty (PPP) as its unique principal manifestation should be reiterated. Case presentation We reported a 1-year-8-month-old girl presenting with rapid bilateral breast and pubic hair development within a 2-month period. Undetectable levels of LH and FSH along with excessively high estradiol after stimulation with gonadotropin-releasing hormone (GnRH), as well as a heterogeneous mass inside left ovary shown in pelvic sonography indicate isosexual PPP. Her gonadal hormones returned remarkably to the prepubertal range the day after surgery, and histology of the ovary mass demonstrated SCTs containing abundant luteinized stromal cells. Conclusion The case highlighted that SCTs causing isosexual PPP should be taken into consideration in any young children coexistent with rapidly progressive puberty given a remarkable secretion of sex hormones. This article also reviewed thoroughly relevant reported cases to enrich the clinical experience of SCTs in the pediatric group.