Seminoma in a 46, XY patient with 17α-hydroxylase deficiency.

Introduction: 17α-Hydroxylase deficiency is a very rare disease reported to be associated with a risk of gonadal malignancy. We herein report a rare case of seminoma in a 46, XY patient with 17α-hydroxylase deficiency. Case presentation: A 52-year-old woman presented with a 9-cm pelvic tumor. At age 14, she had been identified as having the XY karyotype and 17α-hydroxylase deficiency. However, she was not informed and did not consult the urology department. Laparoscopic gonadectomy was performed at the latest consultation, and seminoma was diagnosed. Conclusion: This is the third reported case of testicular tumor and the first of germ cell tumor in a 46, XY patient with 17α-hydroxylase deficiency. Given the rarity and the risk of gonadal malignancy associated with 17α-hydroxylase deficiency, the involvement of multidisciplinary specialists and prophylactic gonadectomy is considered crucial in its management.

Predictive prognostic biomarkers in patients with COVID­19 infection.

The present study aimed to identify useful biomarkers to predict deterioration in patients with coronavirus disease 2019 (COVID­19). A total of 201 COVID­19 patients were classified according to their disease severity into non­severe (n=125) and severe (n=76) groups, and the behavior of laboratory biomarkers was examined according to the prognosis. Neutrophil count, aspartate aminotransferase (AST), alanine aminotransferase, lactate dehydrogenase (LDH), C­reactive protein (CRP), sialylated carbohydrate antigen KL­6 (KL­6), procalcitonin (PCT), presepsin (PSP) and D­dimer levels were significantly higher, and lymphocyte count and platelet count were significantly lower in the non­severe group compared with the severe group. In the non­severe group, ROC analysis demonstrated that only four biomarkers, CRP, PSP, AST and LDH were useful for differentiating the prognosis between improvement and deterioration subgroups. No strong correlation was revealed for any of the markers. Multivariate analysis identified CRP as a significant prognostic factor in non­severe cases (odds ratio, 41.45; 95% confidence interval, 4.91­349.24; P<0.001). However, there were no blood biomarkers that could predict the outcome of patients in the severe group. Overall, several blood markers changed significantly according to disease severity in the course of COVID­19 infection. Among them, CRP, PSP, LDH and AST were the most reliable markers for predicting the patient's prognosis in non­severe COVID­19 cases.

Chronic polyarthritis as the first manifestation of childhood systemic polyarteritis nodosa.

Arthritis has been reported as an acute pattern, generally evanescent with oligoarthritis, mostly affecting knees and ankles in childhood systemic polyarteritis nodosa. However, chronic polyarthritis with morning stiffness mimicking juvenile idiopathic arthritis has not been reported. We describe the case of a 4-year old girl who had additive and chronic polyarthritis with edema, tenderness, pain on motion and morning stiffness for 2 months. After 45 days, she also presented painful subcutaneous nodules and erythematous-violaceous lesions in the extensor region of upper and lower limbs. She was admitted to university hospital due to high fever, malaise, myalgia, anorexia, loss of weight (1kg), painful skin lesions and severe functional disability. She was bedridden by chronic polyarthritis with limitation on motion. Systolic and diastolic blood pressures were greater than 95th percentile for height. Urine protein/creatinine ratio was 0.39g/day, and immunological tests were negative. Anti-streptolysin O was 1,687UI/mL. Skin biopsy revealed necrotizing vasculitis in medium- and small-sized vessels compatible with polyarteritis nodosa. Therefore, we had the diagnosis of systemic polyarteritis nodosa. Prednisone 2mg/kg/day was administered with complete resolution of skin lesions and arthritis, and improvement of proteinuria (0.26g/day) after 15 days. The diagnosis of childhood systemic polyarteritis nodosa should be considered for patients with chronic polyarthritis associated to cutaneous vasculitis triggered by streptococcal infection. RESUMO Na poliarterite nodosa sistêmica pediátrica, a artrite caracteriza-se pelo padrão agudo, geralmente evanescente, com oligoartrite, e afeta principalmente joelhos e tornozelos. No entanto, a poliartrite crônica com rigidez matinal e simulando artrite idiopática juvenil ainda não foi relatada. Descrevemos o caso de uma menina de 4 anos que apresentou poliartrite crônica aditiva com edema, dor à palpação e movimento, e rigidez matinal por 2 meses. Após 45 dias, também apresentou nódulos subcutâneos dolorosos e lesões eritêmato-violáceas na região extensora dos membros superiores e inferiores. Foi internada no hospital universitário por conta de febre alta, mal-estar, mialgia, anorexia, perda de peso (1kg), lesões de pele muito dolorosas e incapacidade funcional grave. Estava restrita ao leito devido à poliartrite crônica com limitação do movimento. Pressões sistólica e diastólica foram maiores que percentil 95 para altura. Relação proteína/creatinina urinária estava 0,39g/dia, e os testes imunológicos foram negativos. Antiestreptolisina O era 1.687UI/mL. A biópsia de pele revelou vasculite necrosante de vasos de pequeno e médio calibre, compatível com poliarterite nodosa. Portanto, foi realizado o diagnóstico de poliarterite nodosa sistêmica. Foi administrada prednisona 2mg/kg/dia com resolução completa das lesões de pele e da artrite, além de melhora da proteinúria (0,26g/dia) após 15 dias. O diagnóstico de poliarterite nodosa sistêmica pediátrica deve ser considerado em pacientes com poliartrite crônica associado a lesões cutâneas vasculíticas, sendo a infecção estreptocócica um importante fator desencadeante.

Chronic polyarthritis as the first manifestation of childhood systemic polyarteritis nodosa / Poliartrite crônica como primeira manifestação de poliarterite nodosa sistêmica pediátrica

ABSTRACT Arthritis has been reported as an acute pattern, generally evanescent with oligoarthritis, mostly affecting knees and ankles in childhood systemic polyarteritis nodosa. However, chronic polyarthritis with morning stiffness mimicking juvenile idiopathic arthritis has not been reported. We describe the case of a 4-year old girl who had additive and chronic polyarthritis with edema, tenderness, pain on motion and morning stiffness for 2 months. After 45 days, she also presented painful subcutaneous nodules and erythematous-violaceous lesions in the extensor region of upper and lower limbs. She was admitted to university hospital due to high fever, malaise, myalgia, anorexia, loss of weight (1kg), painful skin lesions and severe functional disability. She was bedridden by chronic polyarthritis with limitation on motion. Systolic and diastolic blood pressures were greater than 95th percentile for height. Urine protein/creatinine ratio was 0.39g/day, and immunological tests were negative. Anti-streptolysin O was 1,687UI/mL. Skin biopsy revealed necrotizing vasculitis in medium- and small-sized vessels compatible with polyarteritis nodosa. Therefore, we had the diagnosis of systemic polyarteritis nodosa. Prednisone 2mg/kg/day was administered with complete resolution of skin lesions and arthritis, and improvement of proteinuria (0.26g/day) after 15 days. The diagnosis of childhood systemic polyarteritis nodosa should be considered for patients with chronic polyarthritis associated to cutaneous vasculitis triggered by streptococcal infection.

RESUMO Na poliarterite nodosa sistêmica pediátrica, a artrite caracteriza-se pelo padrão agudo, geralmente evanescente, com oligoartrite, e afeta principalmente joelhos e tornozelos. No entanto, a poliartrite crônica com rigidez matinal e simulando artrite idiopática juvenil ainda não foi relatada. Descrevemos o caso de uma menina de 4 anos que apresentou poliartrite crônica aditiva com edema, dor à palpação e movimento, e rigidez matinal por 2 meses. Após 45 dias, também apresentou nódulos subcutâneos dolorosos e lesões eritêmato-violáceas na região extensora dos membros superiores e inferiores. Foi internada no hospital universitário por conta de febre alta, mal-estar, mialgia, anorexia, perda de peso (1kg), lesões de pele muito dolorosas e incapacidade funcional grave. Estava restrita ao leito devido à poliartrite crônica com limitação do movimento. Pressões sistólica e diastólica foram maiores que percentil 95 para altura. Relação proteína/creatinina urinária estava 0,39g/dia, e os testes imunológicos foram negativos. Antiestreptolisina O era 1.687UI/mL. A biópsia de pele revelou vasculite necrosante de vasos de pequeno e médio calibre, compatível com poliarterite nodosa. Portanto, foi realizado o diagnóstico de poliarterite nodosa sistêmica. Foi administrada prednisona 2mg/kg/dia com resolução completa das lesões de pele e da artrite, além de melhora da proteinúria (0,26g/dia) após 15 dias. O diagnóstico de poliarterite nodosa sistêmica pediátrica deve ser considerado em pacientes com poliartrite crônica associado a lesões cutâneas vasculíticas, sendo a infecção estreptocócica um importante fator desencadeante.