Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare congenital disorder characterized by the absence or underdevelopment of the uterus and upper part of the vagina in females with a normal 46, XX karyotype. It affects approximately 1 in 4500–5000 female live births and ranks as the second-most common cause of primary amenorrhea. This case report describes a 28-year-old nulligravid woman who presented with primary amenorrhea, difficulties during sexual intercourse manifesting as pain and resistance, and an incidental finding of a right ovarian new growth. Physical examination revealed normal secondary sexual characteristics and a blind-ending vagina measuring 5 cm in depth. Transvaginal ultrasound confirmed the presence of a transverse vaginal septum with hematocolpos, an infantile uterus with endometrium and cervix, a right ovarian new growth, and a normal left ovary. Both kidneys appeared normal, and hormonal assays were within normal limits. Karyotype analysis confirmed a genotype of 46, XX, indicating a normal chromosomal complement for a female without any detectable structural or numerical chromosomal abnormalities, consistent with typical female development. She subsequently underwent ultrasound-guided excision of the transverse vaginal septum combined with laparoscopic oophorocystectomy. Intraoperatively, findings included a normal left ovary, a right ovarian new growth, absence of fallopian tubes, and an infantile uterus. Histological analysis confirmed a serous cystadenoma in the right ovary. Karyotype analysis confirmed a genotype of 46, XX. The index case was diagnosed with MRKH type II (atypical), characterized by the absence of fallopian tubes and a right ovarian new growth without associated renal, skeletal, or cardiac anomalies.

Familial Adenomatous Polyposis (FAP) is a multi-tumoral syndrome that includes neoplasms in the duodenum, brain, pancreas and thyroid. The Cribriform Morular Variant (CMV) is a rare form of Papillary Thyroid Cancer seen in patients with FAP. Presented here is a 32 year old female who initially presented with an anterior neck mass followed years later by a rectal mass. She was diagnosed with FAP and colorectal adenocarcinoma and underwent total proctocolectomy with end ileostomy. She subsequently underwent a total thyroidectomy which revealed CMV Papillary Thyroid Carcinoma (CMV-PTC). Since FAP can have diverse presentations, a high index of suspicion is needed in order to make an earlier diagnosis to reduce potential morbidity and mortality. Papillary thyroid carcinoma can predate colonic polyposis. Identifying CMV-PTC early on can serve as an opportunity diagnose FAP early.

BACKGROUND AND OBJECTIVE

Prolactinoma is the most common functioning tumor of the pituitary gland. While its clinical course and outcomes among different populations have been vastly described in the past, data of prolactinoma among Filipinos has not been explored. This paper aims to describe the clinical profile and outcome of prolactinoma among adult Filipino patients.

We conducted a retrospective cohort study including 41 patients with prolactinoma seen at the Philippine General Hospital. The clinical profile, cranial imaging features, treatment modalities given, and their outcomes over a mean follow up of 16 months were evaluated.

The mean age at diagnosis was 36.76 ± 13.99 years. Majority of our cohort were females. Macroprolactinoma were found in 75.61% and giant prolactinoma in 9.76%. The remaining 12.2% were mixed GH and PRL secreting tumors. Most common symptoms at presentation were blurring of vision, headache, and amenorrhea. Median PRL levels was 353 (200-470) ng/ml. Medical therapy with Bromocriptine was the primary treatment modality used in 78% of patients. We found no significant difference between patients who underwent surgical and medical primary treatment modalities in terms of outcomes. At the end of follow up, 82.6% of patients achieved at least more than 50% reduction in their prolactin levels.

Overall, our study showed that adult Filipino patients with prolactinoma have a larger tumor size at diagnosis and a lower rate of improvement of gonadal function after treatment. There were no statistically significant differences in clinical and biochemical outcomes between the treatment modalities used.

The parathyroid glands play a crucial role in calcium regulation through parathyroid hormone (PTH) production. Indicators for those with hyperparathyroidism would be elevated serum calcium and PTH levels with further evaluation followed by imaging with neck ultrasonography and parathyroid scintigraphy. Limitations in the initial imaging modalities include operator-dependent sensitivity in neck ultrasonography, and poor spatial resolution, and poor sensitivity for smaller-sized adenomas in parathyroid scintigraphy.

This case report describes a 24-year-old female with elevated parathyroid hormone, and borderline elevated calcium levels with an initial diagnosis of primary hyperparathyroidism secondary to a suspected parathyroid adenoma. The dual tracer dual-phase scintigraphy accompanied by SPECT/CT and subtraction method was negative for a parathyroid adenoma, however, ultrasonography of the neck showed a suspicious nodular structure. Due to the high clinical suspicion, a subsequent ¹⁸F-Choline PET/CT was done and identified an ¹⁸F-Choline-avid lesion, highly suggestive of a parathyroid adenoma. This prompted parathyroidectomy in which histopathology as well as intraoperative reduction in parathyroid hormone levels, confirmed the presence of a parathyroid adenoma.

This is the first recorded ¹⁸F-Choline PET/CT usage for a parathyroid adenoma in the country and highlights the potential of its usage as a sensitive and specific imaging modality in cases where conventional imaging is inconclusive.

Salivary gland tumor is one of the most common tumors in oral and maxillofacial regions. The diagnosis and treatment of salivary gland tumors had been a clinical characteristic project in Peking University School and Hospital of Stomatology since long time ago. Here we introduced the research progress in diagnosis and treatment of salivary gland tumors during the past 10 years. Among 7 190 cases of salivary gland tumors treated in this institution, 4 654 cases (64.7%) were benign, and 2 536 (35.3%) were malignant, with benign ∶ malignant ratio of 1.84 ∶ 1. Parotid was the most common location, followed by minor salivary gland and submandibular gland, while sublingular gland tumor was seldom seen. The proportion of minor salivary gland tumor was relatively high. Among 1 874 cases with primary malignant tumors, the cases with T3 and stage Ⅲ accounted for only 9.6% and 10.3%, respectively, which indicated that there was shortcoming in the T classification and clinical stage formulated by Union for International Cancer Control (UICC), and further revision was required. The 5, 10, and 15 year survival rates of 1 637 cases with postoperative follow-up were 93.1%, 87.2% and 79.3%, respectively, which were much higher than those we reported 30 years ago. The improvement of treatment results was related to more widely used combined treatment with surgery and postoperative radiotherapy, and the increase in patients with early stage. Adenoid cystic carcinoma was the malignant tumor with high rate of distant metastasis. The 5 and 10 year survival rates of the patients with pulmonary metastasis were 76.2% and 51.8%, respectively, which indicated that the pulmonary metastatic carcinomas developed slowly. Recurrent rate of carcinoma ex pleomorphic adenoma was 46.7% after single treatment of sur-gery, while it decreased to 27.5% after combined theraphy with surgery and radiotherapy, indicating that postoperative radiotheraphy could reduce the recurrent rate effectively. The normal myoepithelial cells had the inhibiting role in the invasion and metastasis of carcinoma ex pleomorphic adenoma. The evaluation of integrity of myoepithelial cells surrounding the tumor mass is helpful to understand the invasiveness of the tumors. The new surgical modalities such as extracapsular resection and partial sialoadenectomy were used in treatment of benign tumors of parotid gland and submandibular gland with advantages of decreased tissue damage and preservation of glandular function. Application of digital surgical techniques such as mixed reality combined with surgical navigation and real-time three-dimensional holograms in the surgical treatment of parotid gland tumors showed the benifits of more safety and precision, and less tissue da-mage.
Humans ; Salivary Gland Neoplasms/pathology* ; Carcinoma, Adenoid Cystic/therapy* ; Adenoma, Pleomorphic/therapy* ; Neoplasm Staging

OBJECTIVE: To evaluate the clinical outcomes and explore the application of partial sialoadenectomy for the treatment of benign tumors in the submandibular gland (SMG). METHODS: Patients with pleomorphic adenoma of the SMG who underwent surgical treatment in the Department of Oral and Maxillofacial Surgery, Peking University Shenzhen Hospital, from October 2017 to February 2021, were enrolled and assessed in the follow-up. Fifteen patients underwent partial sialoadenectomy (PS group), and 18 patients underwent total sialoadenectomy (TS group). Postoperative salivary secretion, degree of dry mouth, appearance changes of the face and neck, nerve damage, and tumor recurrence were compared between the groups. The volume of the glands on the operated and contralateral sides of the patients in the PS group, the saliva flow rate, and their correlations, were also analyzed. RESULTS: There was no recurrence during the follow-up period. The whole saliva flow rate at rest in the PS group was higher than that in the TS group [(2.15±1.10) g/5 min vs. (1.35±0.97) g/5 min, t=2.208, P=0.035)], while the stimulated saliva flow rate was not significantly different. The objective feeling of dry mouth, evaluated by visual analogue scale (VAS) score, was more obvious in the TS group than in the PS group (Z=-2.244, P=0.025). In the PS group, the resting saliva flow rate of the SMG on the operated side was lower than that on the contralateral side of the same patient [(0.92±0.40) g/5 min vs. (1.18±0.40) g/5 min, t=-2.821, P=0.014], however, in the cases whose remaining SMG was more than 80% of the contralateral side, the saliva flow rate of both sides was not significantly different (t=-0.027, P=0.980). There was no significant difference in the saliva flow rate per unit volume of the gland on either side (t=-0.015, P=0.989), and the saliva flow rate of the operated SMG was positively correlated with the volume of the remaining gland (r=0.750, P=0.012). The VAS scores for neck deformity were not significantly different between the two groups (t=-0.997, P=0.319). No symptoms of nerve injury occurred in either group. CONCLUSION Partial sialoadenectomy in the SMG can safely remove benign tumors while preserving glandular secretory function, with fewer complications and improved quality of life.
Humans ; Submandibular Gland/pathology* ; Male ; Female ; Middle Aged ; Adenoma, Pleomorphic/surgery* ; Adult ; Treatment Outcome ; Submandibular Gland Neoplasms/surgery* ; Saliva/metabolism* ; Aged

The oral glucose growth hormone suppression test is commonly used in the clinical diagnosis of acromegaly, but its results can be influenced by a variety of factors. This case report discusses a patient with a pituitary tumor and concurrent liver cirrhosis, highlighting the complexities in interpreting test results under such conditions. The patient, a 54-year-old male, presented with blurred vision as his primary complaint. Notably, the physical examination revealed no changes in facial features, no enlargement of hands or feet, and no other symptoms typically associated with acromegaly, which might otherwise suggest excessive growth hormone activity. Magnetic Resonance Imaging (MRI) of the pituitary gland indicated that the gland was within normal size parameters, but a small low-intensity lesion mea-suring approximately 3 mm×2 mm identified. This finding was consistent with a pituitary microadenoma. The patient's fasting growth hormone levels were significantly elevated at 8.470 μg/L, compared with the normal range of less than 2.47 μg/L. Conversely, fasting insulin-like growth factor-1 (IGF-1) levels were notably low, recorded at 41 and 52 μg/L, whereas the normal range for a person of his age was between 87 and 234 μg/L. Other pituitary hormones, including those regulating the thyroid, adrenal cortex, and sex hormones, were found to be within normal ranges. Despite this, during the glucose growth hormone suppression test, an abnormal elevation of growth hormone was observed. To investigate further, the patient was administered branched-chain amino acids, and the suppression test was repeated. However, the abnormal elevation of growth hormone persisted, indicating a failure to normalize the response. Given the patient's lack of clinical signs typically associated with elevated growth hormone secretion, the history of liver cirrhosis became a significant consideration. The disparity between elevated growth hormone levels and reduced IGF-1 levels suggested that the pituitary lesion was a non-functional adenoma rather than a source of excess hormone production. Consequently, it was concluded that the abnormal response of growth hormone to the glucose suppression test was likely related to the patient's liver cirrhosis. In addition to chronic liver disease, various other conditions could influence the results of the oral glucose tolerance growth hormone suppression test. According to the literature, factors such as puberty, diabetes, anorexia nervosa, and protein malnutrition could also affect test outcomes. These conditions could cause similar abnormalities in growth hormone dynamics, complicating the diagnosis. Therefore, clinicians must be vigilant and consider these potential influences when interpreting test results.For an accurate diagnosis of acromegaly, it is essential to combine clinical symptoms, detailed medical history, and imaging studies. The presence of conditions like liver cirrhosis should prompt careful interpretation of the test results, ensuring that other contributing factors are not overlooked. This comprehensive approach is crucial to avoid misdiagnosis and to ensure that appropriate treatment strategies are implemented based on a thorough understanding of the patient's overall health status.
Humans ; Male ; Middle Aged ; Pituitary Neoplasms/blood* ; Liver Cirrhosis/blood* ; Adenoma/blood* ; Human Growth Hormone/blood* ; Insulin-Like Growth Factor I/metabolism* ; Acromegaly/etiology* ; Magnetic Resonance Imaging

Objective:To assess the efficacy of "three-step" strategy for preparing autologous pedicled nasal mucosal flaps in repairing cerebrospinal fluid（CSF） leaks following transsphenoidal pituitary adenoma surgery. Methods:A retrospective study was conducted on the clinical data of 25 patients who developed CSF leaks after transsphenoidal pituitary adenoma surgery at the First Affiliated Hospital of Kunming Medical University between July 2012 and June 2022. Surgical repair was selected step by step using nasal septal mucosal flap with either the posterior septal artery or septal branch of the sphenopalatine artery as the pedicle, or a pedicled middle turbinate mucosal flap. All patients underwent ≥2-year endoscopic follow-up to assess flap viability and CSF leak recurrence. Results:The median postoperative hospital stay was 4 days. Five patients developed intracranial infections postoperatively. The follow-up period ranged from 2 to 12 years. Nasal endoscopic examinations showed good mucosal flap growth, with no recurrence of CSF leakage in any of the patients. Conclusion:High-flow cerebrospinal fluid（CSF） leaks following pituitary tumor surgery pose significant challenges for clinical repair. Based on intraoperative nasal septal mucosal preservation and the condition of sellar base CSF leakage, the "three-step" strategy for preparing autologous pedicled nasal mucosal flaps-utilizing posterior septal artery, ethmoidal artery-based, or pedicled middle turbinate mucosal flaps sequentially-is a safe and effective repair method.
Humans ; Retrospective Studies ; Pituitary Neoplasms/surgery* ; Surgical Flaps ; Nasal Mucosa/surgery* ; Cerebrospinal Fluid Leak/surgery* ; Adenoma/surgery* ; Postoperative Complications/surgery* ; Male ; Female ; Middle Aged ; Adult ; Aged

Pleomorphic adenoma arising from the torus tubarius of the nasopharynx is an extremely rare entity with limited epidemiological data and unclear etiological mechanisms. Its pathogenesis may be related to the eustachian tube salivary glands. Here we report an elderly female patient with a long history of snoring, hypernasal speech and epistaxis. Following comprehensive diagnostic evaluation, the patient underwent tumor resection under nasal endoscopy. There were no postoperative complications, the symptoms were significantly improved, and there was no obvious recurrence during the follow-up. We summarized the experience of diagnosis and treatment of giant pleomorphic adenoma of the tubal torus. The main treatment for tubal torus pleomorphic adenoma is complete surgical resection, with a good prognosis and a low recurrence rate.
Humans ; Female ; Adenoma, Pleomorphic/surgery* ; Aged ; Nasopharynx/pathology*

Objective:To summarize the clinical characteristics, diagnosis and treatment experience of salivary pleomorphic adenoma in children. Methods:Thirty patients with salivary pleomorphic adenomas treated in Beijing Childrens Hospital from January 2008 to December 2022 were retrospectively reviewed, including 11 boys and 19 girls, with the age ranging from 0.3 to 14.4 years（median age 10.4 years）. Initial presentation, medical history, imaging workups, surgical approaches, complications, rates of recurrence were evaluated. Results:Major salivary gland lesions were most common（n=24, 80%）; 53.3%（16 of 30） arising in the submandibular glands and 26.7%（8 of 30） in the parotid. Minor salivary gland lesions（n=6, 20%） were removed from the palate, tongue, face, trachea, nasopharynx, and upper mediastinumand. Preoperative imaging was reviewed in all patients and consisted of 26 ultrasound exams, 2 computerized tomography（CT） exams, and 15 magnetic resonance imaging（MRI） exams. Fine needle aspiration biopsy was performed in 12 patients. Surgical excision was performed in all patients. Postoperative complications included transient facial paresis（n=3）, Pneumonia and pleural effusion（n=1）. Average length of follow-up was 36.7 months; confirmed recurrence occurred in one patients. Conclusion:The symptoms of salivary gland pleomorphic adenoma in children are different according to the location of the tumor. The treatment is complete surgical resection, and a small amount of normal tissue around the tumor should be removed to reduce recurrence.
Humans ; Male ; Female ; Child ; Adenoma, Pleomorphic/diagnosis* ; Adolescent ; Retrospective Studies ; Salivary Gland Neoplasms/diagnosis* ; Child, Preschool ; Infant ; Neoplasm Recurrence, Local