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Background: A new strain of human coronavirus (HCoV) spread rapidly around the world. Diabetes and obesity are associated with a worse prognosis in these patients. Congenital Generalized Lipodystrophy (CGL) patients generally have poorly controlled diabetes and require extremely high doses of insulin. There is no documentation in the literature of cases of COVID in CGL patients. Thus, we aimed to evaluate the prevalence of SARS-CoV-2 infection in CGL patients, and the association of their clinical and metabolic characteristics and outcomes. Methods: This is a cross-sectional study carried out between July and October 2020. Clinical data collected were respiratory or other flu-like symptoms, need of hospitalization in the last three months, CGL comorbidities, and medications in use. Cholesterol, triglycerides, glycohemoglobin A1c levels, anti-SARS-CoV-2 antibodies and nasopharyngeal swab for RT-qPCR were also obtained in all CGL patients. Mann-Whitney U test was used to analyze the characteristics of the participants, verifying the non-adherence of the data to the Gaussian distribution. In investigating the association between categorical variables, we used Pearson’s chi-square test and Fisher’s exact test. A significance level of 5% was adopted. Results: Twenty-two CGL patients were assessed. Eight subjects (36.4%) had reactive anti-SARS-CoV-2 antibodies. Only one of these, also presented detectable RT-qPCR. Five individuals (62.5%) were women, median age of 13.5 years (1 to 37). Symptoms like fever, malaise, nausea, diarrhea and chest pain were present, and all asymptomatic patients were children. All subjects had inadequate metabolic control, with no difference between groups. Among positive individuals there was no difference between those with AGPAT2 (75%) and BSCL2 gene mutations (25%) (p > 0.05). No patient needed hospitalization or died. Conclusions: We described a high prevalence of SARS-CoV-2 infection in CGL patients with a good outcome in all of them. These findings suggest that at least young CGL patients infected by SARS-COV-2 are not at higher risk of poor outcome, despite known severe metabolic comorbidities.

SUMMARY Thyroid carcinoma (TC) is rare in children, particularly in those aged < 10 years. Several studies have demonstrated a correlation between neoplasms and hyperinsulinemia and insulin resistance, which are often associated with a higher risk for and/or aggressiveness of the neoplasm. Congenital generalized lipodystrophy (CGL) with autosomal recessive inheritance is a rare disease and is characterized by the lack of adipose tissue, severe insulin resistance, and early metabolic disturbances. Here, we reported a rare case of a type 2 CGL in a girl who presented with a papillary TC (PTC) at the age of 7 years. She had no family history of TC or previous exposure to ionizing radiation. She had a generalized lack of subcutaneous fat, including the palmar and plantar regions, muscle hypertrophy, intense acanthosis nigricans, hepatomegaly, hypertriglyceridemia, severe insulin resistance, and hypoleptinemia. A genetic analysis revealed a mutation in the BSCL2 gene (p.Thr109Asnfs* 5). Ultrasound revealed a hypoechoic solid nodule measuring 1.8 × 1.0 × 1.0 cm, and fine needle aspiration biopsy suggested malignancy. Total thyroidectomy was performed, and a histopathological examination confirmed PTC with vascular invasion and parathyroid lymph node metastasis (pT3N1Mx stage). This is the first report to describe a case of differentiated TC in a child with CGL. Severe insulin resistance that is generally observed in patients with CGL early in life, especially in those with type 2 CGL, may be associated with this uncommon presentation of aggressive PTC during childhood.

Objective: To evaluate the hearing function of children with congenital hypothyroidism (CH). Methods: A descriptive, quantitative, cross-sectional study carried out at NAMI in Fortaleza University, on 2006. Forty six children joined in the study, of whom 30 children with CH receiving hormonal replacement therapy with levothyroxine and 16 healthy children consisting of control group (CG). All the children had an auditory evaluation. The control group children were submitted to a TSH and free T4 level. Medical records were analyzed to determine the TSH and free T4 level, the beginning and the follow-up for children with CH. Results: Female gender prevailed in both groups, CH and CG, 23 (76.7%) and 9 (56.3%) children, respectively. The age group of the children with CH ranged from 3 months to 8 years old and the age group of the children from CG ranged from 4 months to 5.6 years old. The average for the beginning of the therapy with levothyroxine in CH children was 135.43 ±325.58 days. The other auditory tests were within the normal range and no statistically significant difference was found between the groups. Conclusions: Children with CH didn’t show any alteration in hearing threshold levels. They were first submitted to an auditory exam very late and the average time to start the therapy for CH was 4.5 months. This could contribute for the absence of hearing alterations at auditory evaluations, indicating that treated congenital hypothyroidism, even though not precociously, will not cause alteration in hearing threshold levels. Objetivo: Avaliar a audição de crianças com hipotireoidismo congênito (HC). Métodos: É um estudo descritivo e transversal, de abordagem quantitativa, realizada em Núcleo de Atenção Médica Integrada (NAMI) da Universidade de Fortaleza, no ano de 2006. Participaram do estudo 46 crianças, sendo 30 crianças com HC em tratamento com levotiroxina e 16 crianças constituindo o grupo controle (GC) sem tal alteração. Todas as crianças realizaram avaliação auditiva. As crianças do GC foram submetidas a dosagem de TSH e T4 livre. A dosagem de TSH e T4 livre, o início e o acompanhamento do tratamento para o grupo com HC foi analisado através do estudo de prontuários. Resultados: O gênero feminino predominou nas crianças dos dois grupos, HC e GC, 23 (76,7%) e 9 (56,3%) crianças respectivamente. A faixa etária das crianças com HC variou de 3 meses a 8 anos e das crianças do GC variou de 4 meses a 5,6 anos. O início do tratamento das crianças com HC ocorreu em média de 135,43 ± 325,58 dias. Os exames auditivos encontravam-se dentro do padrão de normalidade, não havendo diferença estatisticamente significante entre os grupos. Conclusões: As crianças com HC avaliadas não apresentaram alteração do limiar auditivo, realizaram o primeiro exame auditivo tardiamente e a média de tempo para o início do tratamento era de 4,5 meses,o que pode ter contribuído para ausência de alteração da audição na avaliação audiológica, indicando que o hipotireoidismo congênito tratado, mesmo que não precocemente, não causará alteração do limiar auditivo.

Objective: To describe the reality of metabolic and hearing screening in newborns at risk in public hospitals of the city of Fortaleza: Hospital Geral Dr. César Cals (HGCC), Maternidade-Escola Assis Chateaubriand (MEAC) and Hospital Geral de Fortaleza (HGF). Methods: A descriptive and cross-sectional study developed by means of interviews with 4 pediatricians and with 127 newborn mothers (45 from HGCC, 40 from MEAC e 42 from HGF), between June and October, 2004. The studied data refers to: accomplishment, test, age, mothers’ knowledge, among others. Results: According to the pediatricians, screening happens in an efficient way. The metabolic one occurs in the 3 hospitals, and the hearing one happens in 2 of them (HGCC and MEAC). According to the mothers, it was verified that 4 (3.1%) of the newborns were not submitted to metabolic screening and 36 (28,3%) did not underwent hearing screening. Many of them were submitted to metabolic screening in a inappropriate period, after the 30th day of life (54.8% at HGCC, 48.8% at HGF and 17.5% at MEAC). Most of the mothers referred that hearing screening was accomplished in their children after the 3rd month of life. At the hospitals, the disclosure of the importance of metabolic screening was more frequent than that of hearing one. The mothers didn’t know the ideal period for the screenings and the diseases detected by them. Conclusion: Metabolic and hearing screenings are part of the reality of these hospitals, although, at this moment, not yet plainly. Failures were detected, especially in the lack of a wide coverage and in the age of the newborn. These data point out to the need for action in that respect. Objetivo: Descrever a realidade da triagem metabólica e auditiva em neonatos de risco em hospitais públicos da cidade de Fortaleza: Hospital Geral Dr. César Cals (HGCC), Maternidade- Escola Assis Chateaubriand (MEAC) e Hospital Geral de Fortaleza (HGF). Métodos: Estudo descritivo e transversal realizado através de entrevistas com 4 pediatras e com 127 mães dos neonatos (45 do HGCC, 40 da MEAC e 42 do HGF), no período de junho a outubro de 2004. Os dados investigados referem-se a: realização, teste, idade, conhecimento das mães, entre outros. Resultados: Segundo os pediatras, as triagens acontecem de forma eficiente. A metabólica ocorre nos 3 hospitais, enquanto a auditiva em 2 (HGCC e MEAC). Segundo as mães, verificou-se que 4 (3,1%) neonatos não submeteram-se a triagem metabólica e 36 (28,3) a triagem auditiva. Muitos deles realizaram a triagem metabólica no período inadequado, após o 30º dia de vida (54,8% no HGCC, 48,8% no HGF e 17,5% na MEAC). A maioria das mães relatou que a triagem auditiva foi realizada em seus filhos após o 3º mês de vida. Nos hospitais a divulgação da importância da triagem metabólica foi mais freqüente do que a da triagem auditiva. As mães desconhecem o período adequado para as triagens e as doenças detectadas. Conclusão: As triagens fazem parte da realidade desses hospitais embora, neste momento, ainda não plenamente. Constataram-se pontos falhos, principalmente, na falta de cobertura ampla e na idade do neonato. Os dados obtidos apontam à necessidade de ações nesse âmbito.

OBJETIVOS: Tumores testiculares são uma rara condição associada à hiperplasia adrenal congênita (HAC) que decorrem da hiperplasia de restos adrenais intratesticulares (HRA), raramente ocorrendo associados a neoplasias malignas. Sua diferenciação histológica com tumores de células de Leydig é muito difícil, podendo levar a orquiectomias desnecessárias. O objetivo deste relato foi apresentar esse dilema diagnóstico em um paciente com HAC e tumores testiculares bilaterais. MÉTODOS: Relatou-se o caso de um paciente masculino, 16 anos, com diagnóstico de HAC desde os 3 anos de idade, que apresentava tumorações testiculares endurecidas, indolores e de crescimento lento, sendo encaminhado para orquiectomia bilateral. RESULTADOS: Foi decidido por tratamento conservador com prednisona, havendo significativa diminuição do volume testicular e normalização dos níveis de andrógenos. CONCLUSÃO: Este caso demonstra a importância de sempre se considerar a hipótese de HRA intratesticulares no diagnóstico diferencial dos tumores testiculares. A investigação e a conduta devem ser conduzidas de maneira cautelosa para se evitar orquiectomias desnecessárias. OBJECTIVES: Testicular tumors are a rare condition associated with congenital adrenal hyperplasia (CAH), originated from intratesticular adrenal rest tumors, and they are rarely associated with malignant tumors. Their histological differentiation from Leydig-cell tumors is quite difficult, which would lead to inappropriate orchiectomies. Thus the objective of this report was to present this diagnostic dilemma. METHODS: Reported the case of 16-yr-old boy with previous diagnosis of CAH with bilateral testicular enlargement who was recommended to be submitted to a bilateral orchiectomy. RESULTS: Considering this findings, it was decided to treat conventionally with prednisone with significant reduction of testicular volume, and normalization of androgens levels. CONCLUSION: This case shows the importance of intratesticular adrenal rest tumors in the differential diagnosis of testicular tumors. Cautious approach during investigation and treatment are recommended to avoid inappropriate orchiectomies.