ACTA ENDOCRINOLOGICA (BUC)

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Background. Dopamine agonists (DA) are first line treatment for prolactinomas. Optic chiasm herniation can rarely occur during therapy, while brain herniation is very uncommon. Case Reports. A 34 yo woman presented with headaches and vision changes. Prolactin (PRL) was 4300 ng/ mL. MRI showed a 4.5 cm pituitary adenoma with chiasm compression. After 3 months, PRL decreased to 201 ng/ mL while patient was taking CAB 0.75 mg twice a week. MRI showed ~30% tumor reduction with medial temporal lobe herniation and encephalocele. CAB was stopped and she underwent surgical debulking and encephalocele repair. Histopathology confirmed prolactin tumor. CAB 0.75 mg twice a week was resumed. A 50 yo man had incidental detection of a sellar mass after trauma. MRI showed 3.6 cm tumor with minimal contact of right optic nerve, and PRL 3,318 ng/ml. He received CAB 0.5mg twice a week with PRL improvement to 26 ng/mL after 1 month. After 2 months ophthalmology exam showed new left superotemporal depression. PRL was 68 ng/mL and MRI showed 35% mass reduction and new inferior displacement tethering of the chiasm. CAB dose was decreased to 0.25 mg twice a week. Conclusion. Our cases illustrate that rapid biochemical and radiographic response to DA therapy in large prolactinomas warrants close clinical and neuroophthalmologic follow-up. We recommend repeating the MRI 3 months after initiation of DA therapy or sooner in case of new mass effect manifestations. Decision regarding DA dose reduction or chiasmopexy for visual field deficits needs to be multi-disciplinary and on a case-to-case basis.

Context. Thyroid fine-needle aspiration (FNA) cytology is the best tool for preoperative diagnosis of thyroid carcinoma; however, its learning curve is poorly described. Our aim was to assess the learning curve of a new thyroid FNA center involving unexperienced operator and pathologist. Methods. We retrieved from our tertiary endocrinology center database all thyroid FNA procedures done by a single operator (endocrinologist with no experience in FNA) between 2018 and 2021. Cytology was assessed by two pathologists with limited or no experience in thyroid cytology. We also got the corresponding sex, age, nodule diameter, EU-TIRADS score, Bethesda category and final pathology report. Results. There were 1872 FNA in 1618 patients. Proportion of Bethesda 1 nodules decreased significantly (p for trend=0.003) from 17% in the first 100 FNA procedures to 4% in the 401-500 group of procedures, and remained constant between 9% and 4% (p for trend=NS) for the rest of the study. Proportion of Bethesda 2 rose steady from 26% in the first 100 nodules to 80.1% in the last 241 nodules (p for trend<0.001). Indeterminate lesions (Bethesda 3 and 4) decreased significantly (p for trend=0.001) from 16% and 35% in the first 100 nodules to 2.5% and 5.8% in the last 241 lesions. Proportions of Bethesda 5+6 categories varied non-significantly over time. There were no time trends in the malignancy rate of surgically removed nodules. Conclusions. At least 300 procedures are needed to reach the standard performance. A steadily state for the whole center is obtained after about 500 procedures.

Sarcoidosis, a disease of an unknown etiology, is characterized by the presence of noncaseating granulomas that are most often found in the intrathoracic lymph nodes, lung and in other organs. Hashimoto' thyroiditis is one of the most common organ-specific autoimmune diseases. Although several reports describe the coincidence of sarcoidosis and Hashimoto's thyroiditis, the understanding of the relationship between these two disorders is limited. A 50 year old woman was admitted for cervico-thoracic goiter having a long history of nodular goiter for about 25 years and being suspect of pulmonary sarcoidosis. A chest radiograph and CT scan showed plunging intrathoracic goiter, lymphadenopathy with a pulmonary interstitial infiltrating process. A tracheo-bronchial lung biopsy revealed non-caseating granulomatous lesions consisting of epithelioid cells, confirming sarcoidosis. Angiotensin converting enzyme was high, therefore the patient was diagnosed as having sarcoidosis. The thyroid gland showed signs of goiter, tenderness and nodularity, without latero-cervical adenopathy. Thyroid function tests were normal and thyroid antibodies were positive. For cervico - thoracic goiter, total thyroidectomy with cervical lymph-adenomectomy was practiced. The histopathological exam demonstrated thyroid sarcoidosis, lymph nodes involvement and chronic thyroiditis.

Context. Hyperparathyroidism-jaw tumour (HPTJT) syndrome is a rare autosomal dominant cause of familial hyperparathyroidism associated with ossifying fibromas (OF) of the maxillofacial bones and increased risk of parathyroid carcinoma, caused by inactivating germline mutation of the cell division cycle 73 (CDC73) gene. Objective. To report the first Romanian family with HPT-JT and genetic screening of CDC73 gene. Subjects and Methods. Mutational analysis of the CDC73 gene and genetic screening of the family of a proband with HPT-JT. Histological diagnosis of parathyroid tumors (WHO criteria) and immunohistochemistry (parafibromin) were performed. Results. Three of the six screened family members had evidence of PHPT and surgically proven parathyroid tumours. Two of the three affected members had parathyroid carcinomas and one had two parathyroid adenomas. Genetic screening of CDC73 gene revealed that 4 of 6 patients showed a heterozygous germline deletion of one nucleotide: c.128-IVS1+1 delG. All the three affected patients, resulted to be carriers of the CDC73 mutation, but each one bearing a different CDC73 polymorphism. Conclusions. We identified a new CDC73 germline mutation in a Romanian family of HPT-JT. Analysis of clinical phenotypes in the four mutated individuals confirmed the incomplete penetrance and the variable clinical expression of the disease.

Thyroid carcinoma is rare in children and adolescents and has a relatively favorable prognosis. As in adults, the incidence in girls is double than in boys. It has a little risk of mortality, but a high risk of recurrence. Patients younger than 15 years old at diagnosis are considered more likely to have more extensive tumor at diagnosis than patients who are 15 years and older. We report two patients: an 11 years old girl with Fallot tetrallogy and papillary thyroid cancer and a 13 years old girl with Graves&#8217; disease treated with antithyroid drugs for three years and thyroidectomized at 17 years old with an incidental thyroid microcarcinoma. Those unusual associations are discussed regarding therapy and follow-up issues.

Tuberculosis continues to be a universal health problem and recent studies showed an increased incidence of all forms of this disease. We report the case of a 81 year old female patient with a large left cervical tumour and cutaneous lesions that proved to be an unusual form of tuberculosis. The patient had a 2 years history of slowly increasing left cervical mass with no significant clinical manifestation. Medical assistance was requested mostly by the family, concerned about the large mass visible on the left side of the patient?s neck. Clinical and laboratory investigation revealed: a large left laterocervical tumour and the presence of erythematous, non pruriginous skin lesions. No significant changes were shown by routine blood tests. Thyroid function was in the normal range. Neck ultrasound revealed the presence of a 5/6 cm, well defined hypoechoic mass and the thyroid scan showed no accumulation of the radiotracer in the cervical tumour. Routine tuberculosis test was negative and the patient had no sign of pulmonary involvement. Histopathological examination after ablation of this tumour showed the presence of granulomatous lesions suggesting tuberculosis or sarcoidosis. The same aspect was seen after histopathological examination of the specimens from cutaneous biopsy. The diagnosis was certified by the PCR amplification of the DNA extracted from the skin lesions, which led to the identification of Mycobacterium tuberculosis. The cutaneous lesions were clearly improved after tuberculostatic treatment, supporting the hypothesis of a rare form of cutaneous tuberculosis.

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