Manifestations of pheochromocytoma have some specific features in children. The aim of this study was to explore epidemiologic differences of the disease course in children and adults, the principal causes of pheochromocytoma recurrence, and the optimal extent of an operative intervention in a group of patients with initial manifestation of their tumor during childhood. A total of 520 patients with pheochromocytoma underwent surgery from 1957 to 2001. The mean age of the patients was 39.3 +/- 9.2 years; 50 patients (9.6%) were 16 years or under (children's group). There were 213 males (41%) in the general group and 32 males (62%) in the children's group. Bilateral adrenal lesions were present in 68 patients (13.1%), including 16 of the 50 children (32%). The tumors were extraadrenal in 36 patients (6.9%), including 9 of the 50 children (18%). The combination of pheochromocytoma and a hereditary syndrome was present in 36 cases (6.9%). Follow-up was obtained in 260 patients, including 46 children. Length of follow-up varied from 4 to 25 years (average 8.4 +/- 1.9 years). The pheochromocytoma recurred in 49 patients (18.8% of surveyed patients), with a true recurrence (a tumor in the region of the primary operation or metastases) in 16 patients (6.15%). A true pheochromocytoma recurrence was noted in 6 of the 50 children (12.0%). Organ-sparing tactics for multicentric adrenal lesions was a principal cause of the true recurrence. Therefore we believe it is necessary to perform a radical operation, which includes adrenalectomy and removal of the tumor, in patients with a high risk of recurrence.

Laparoscopy is a method of choice to pheochromocytoma in experienced hands. Open approaches are still feasible. Among traditional approaches lumbotomy should be preferred. Thoracophrenotomy can be justified only for major tumors on the right side. Laparotomy is indicated in selected cases of extraadrenal pheochromocytoma.

Patient: Female, 28Final Diagnosis: Primary hyperparathyroidismSymptoms: Clavate swelling of the tubular bones • deformation of ribs and pelvic bones • duck gait • gait disturbance • general weakness • joint restrictions • keeled thorax • lameness • muscle weakness • pain in the bones and joints • rachiocampsisMedication: —Clinical Procedure: C-section in the lower uterine segment by transverse incision • a thoracoscopic removal of ectopic formation of the parathyroid glandSpecialty: Obstetrics and GynecologyObjective:Rare co-existance of disease or pathologyBackground:Primary hyperparathyroidism is most common in women during the menopause and its occurrence in pregnant women is rare. However, because neonatal mortality is associated with maternal hyperparathyroidism, early diagnosis is essential. This report describes the case of a late diagnosis of primary hyperparathyroidism in a 28-year-old pregnant woman and describes the effects on the mother and neonate.Case Report:During her second pregnancy, a 28-year-old woman presented with symptoms of general weakness, bone and joint pain, multiple fractures with bone deformity, muscle weakness, and gait disturbance. Due to the high risk of perinatal pathology, a cesarean section was performed. Several weeks later, she underwent thoracoscopic removal of an ectopic parathyroid gland located at the aortic arch. Hypocalcemia in the newborn infant required treatment with calcium and magnesium supplements.Conclusions:This case demonstrates that primary hyperparathyroidism during pregnancy requires timely diagnosis and treatment to reduce potential maternal and fetal complications. Screening for primary hyperparathyroidism should be undertaken in pregnant women with any symptoms associated with hypercalcemia. Treatment should be individualized and includes conservative management, parathyroidectomy in the second trimester, or parathyroidectomy performed in the early postpartum period.

BackgroundPrimary hyperparathyroidism (PHPT) is a relatively rare disorder among children, adolescents and young adults. Its development at an early age is suspicious for hereditary causes, though the need for routine genetic testing remains controversial.ObjectiveTo identify and describe hereditary forms of PHPT in patients with manifestation of the disease under 40 years of age.DesignWe enrolled 65 patients with PHPT diagnosed before 40 years of age. Ten of them had MEN1 mutation, and PHPT in them was the first manifestation of multiple endocrine neoplasia type 1 syndrome.MethodsThe other fifty-five patients underwent next-generation sequencing (NGS) of a custom-designed panel of genes, associated with PHPT (MEN1, CASR, CDC73, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDKN2C, CDKN2D). In cases suspicious for gross CDC73 deletions multiplex ligation-dependent probe amplification was performed.ResultsNGS revealed six pathogenic or likely pathogenic germline sequence variants: four in CDC73 c.271C>T (p.Arg91*), c.496C>T (p.Gln166*), c.685A>T (p.Arg229*) and c.787C>T (p.Arg263Cys); one in CASR c.3145G>T (p.Glu1049*) and one in MEN1 c.784-9G>A. In two patients, MLPA confirmed gross CDC73 deletions. In total, 44 sporadic and 21 hereditary PHPT cases were identified. Parathyroid carcinomas and atypical parathyroid adenomas were present in 8/65 of young patients, in whom CDC73 mutations were found in 5/8.ConclusionsHereditary forms of PHPT can be identified in up to 1/3 of young patients with manifestation of the disease at <40 years of age. Parathyroid carcinomas or atypical parathyroid adenomas in young patients are frequently associated with CDC73 mutations.

Список сокращений АГ-артериальная гипертензия АД-артериальное давление ВMК-ванилилминдальная кислота КТ-компьютерная томография МАО-моноаминоксидаза МЙБГ-метайодбензилгуанидин МРТ-магнитно-резонансная томография МЭН-множественная эндокринная неоплазия ОФЭКТ-однофотонная эмиссионная компьютерная томография ПЭТ-позитронно-эмиссионная томография ФДГ-фтордезоксиглюкоза ФДОФА-фтордофамин ФХЦ/ПГ-феохромоцитома и параганглиома ЦНС-центральная нервная система ЧСС-частота сердечных сокращений HU-единица Хаунсфилда NF1-нейрофиброматоз I типа SDH-сукцинатдегидрогеназа VHL-болезнь фон Гиппеля-Линдау

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В представленных клинических рекомендациях обсуждаются современные подходы к диагностике и лечению дифференцированного рака щитовидной железы у взрослых. Изменения в настоящей редакции Клинических рекомендаций касаются показаний к пункционной биопсии, скринингового определения концентрации кальцитонина, унификации заключений цитологического исследования, новых подходах к послеоперационной динамической стратификации риска рецидива, показаний к супрессивной и заместительной терапии, таргетной терапии йоднегативных форм дифференцированного рака щитовидной железы.

Обсуждается диагностический алгоритм при случайно выявленных образованиях надпочечников, направленный на определение гормональной активности и злокачественного потенциала, показания и ранжированность наблюдения  для группы пациентов с гормонально неактивными доброкачественными опухолями. Рекомендовано определение гормональной активности образования, которая может проявляться гиперкатехоламинемией, эндогенным гиперкортицизмом, первичным гиперальдостеронизмом. Всем пациентам рекомендовано определение кортизола в утренние часы на фоне подавляющего теста с 1 мг дексаметазона. При отсутствии физиологического подавления уровня кортизола в качестве подтверждающего теста предлагается использовать определение адренокортикотропного гормона в утренние часы. В качестве метода первичной диагностики феохромоцитомы/параганглиомы (ФХЦ/ПГ) рекомендовано определение свободных метанефринов плазмы или фракционированных метанефринов суточной мочи. При положительном результате тестирования необходимо углубленное обследование для исключения или подтверждения ФХЦ/ПГ. При наличии у больного с опухолью надпочечника артериальной гипертензии рекомендовано определение соотношения между уровнем альдостерона и активностью ренина плазмы (прямой концентрации ренина) для исключения первичного гиперальдостеронизма. Для диагностики злокачественного потенциала опухоли рекомендована оценка количественных денситометрических показателей компьютерной томографии. Лечебная тактика в отношении инциденталом надпочечников не рассматривается в настоящих рекомендациях, так как является сферой компетенции соответствующих рекомендаций по конкретным нозологиям.