Primary adrenal insufficiency is defined by the impaired synthesis of adrenocortical hormones due to an intrinsic disease of the adrenal cortex. Determining its etiology is crucial to allow adequate long-term management and genetic counseling. We report the case of a male adolescent that presented in the neonatal period with adrenal crisis and received replacement therapy for primary adrenal insufficiency. During follow-up, adrenal hypoplasia congenita (AHC) was suspected given his persistently raised adrenocorticotropic hormone levels, with markedly low 17-OH progesterone and androstenedione levels. DNA sequence analysis revealed a mutation in NR0B1 gene (c.1292delG), confirming the diagnosis. Delayed puberty and persistent low levels of gonadotropins led to testosterone replacement therapy. X-linked AHC is a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism, related to mutations in NR0B1 gene. Despite its rarity, AHC should be considered in patients who present with primary adrenal failure, low levels of 17-OH progesterone and hypogonadotropic hypogonadism.
Objective: To report a case of varicella complicated by acute osteomyelitis in order to remind of a rare and potentially serious complication of a very common pediatric disease.Case description: A previously healthy 3-month-old female infant with 10-day history of varicella was admitted to the hospital for fever, groan and prostration. The initial laboratorial evaluation was compatible with bacterial sepsis. By the third day after admission, a swelling of the seventh left rib had developed. The ultrasound and scintigraphy evaluation suggested rib osteomyelitis. Blood cultures were negative. The patient completed six weeks of antibiotics with favorable clinical, laboratorial and imaging evolution.Comments: Varicella is one of the most frequent exanthematic diseases of childhood and it is usually self-limited. The most frequent complication is bacterial infection of cutaneous lesions. Osteoarticular complications are rare, and rib osteomyelitis is described in less than 1% of cases. The main route of dissemination is hematogenic, and the most frequent etiological agent is Staphylococcus aureus. The prognosis is generally good and depends on early detection and antibiotic initiation.
In 2010, the International Association of Diabetes and Pregnancy Study Groups consensus panel proposed new diagnostic criteria for gestational diabetes mellitus. In light of this consensus, by 2011 Portugal updated its recommendations for diagnosis of gestational diabetes, abandoning the Carpenter and Coustan diagnostic criteria. The aim of this study was centered on assessing the impact of implementing this new diagnostic criteria. Methods: In this study, an evaluation of the pregnant women followed in our endocrinology department with the diagnosis of gestational diabetes was proceeded. During two stages, 2008-2010 and 2013-2015, analysis of the prevalence of gestational diabetes, maternal characteristics, obstetric outcomes and insulin treatment was taken into account. The New Screening and Diagnostic Criteria of Gestational Diabetes: What Impact? Introdução: Em 2010, a Associação Internacional dos Grupos de Estudos de Diabetes e Gravidez propôs novos critérios de diagnóstico para a diabetes gestacional. Em Portugal, estes critérios foram adotados em 2011. Até então, o rastreio utilizado baseava-se nos critérios de Carpenter e Coustan. Propusemo-nos a avaliar o impacto da adoção dos novos critérios de diagnóstico da diabetes gestacional. Métodos: Avaliamos as grávidas seguidas na consulta de Endocrinologia por diabetes gestacional em dois períodos temporais. Entre 2008 e 2010, correspondente ao rastreio Carpenter e Coustan, e entre 2013 e 2015, referente ao rastreio atual. Em ambos os períodos avaliou-se a prevalência da diabetes gestacional, caraterísticas maternas, desfechos obstétricos e tratamento com insulina. Resultados: No nosso centro, entre 2008 e 2010, 5,8% (n= 421) das grávidas foram classifi cadas como diabetes gestacional pelos critérios Carpenter e Coustan, destas, 198 foram incluídas na análise deste estudo. Entre 2013 e 2015, 8,7% (n= 457) foram classifi cadas como diabetes gestacional, destas, 294 foram incluídas neste estudo. As grávidas classifi cadas como diabetes gestacional pelos critérios atuais, tinham um menor índice de massa corporal prévio à gravidez (26,7 kg/m 2 vs 27,6 kg/m 2 ; p= 0,041), mais casos de evolução ponderal inferior ao recomendado (49,7% vs 29,8%; p< 0,001) e maior necessidade de tratamento com insulina (44,2% vs 28,8%; p< 0.001). Neste mesmo grupo, os recém-nascidos tiveram um menor peso médio à nascença (3137 g ± 465 vs 3274 ± 475 g; p= 0,002) e menos recém-nascidos foram classifi cados como grandes para a idade gestacional (4,08% vs 13,5%; p< 0,001). Não se registaram diferenças na idade gestacional (p= 0,883), tipo de parto (p= 0,506), parto pré-termo (p= 0,340), macrossomia (p= 0,103) e recém-nascidos pequenos para a idade gestacional (p= 0212). Conclusão: A aplicação do novo rastreio refl etiu-se num aumento da prevalência de diabetes gestacional, em maior necessidade de tratamento com insulina e melhoria de alguns desfechos obstétricos. Os resultados deste estudo são assim favoráveis à continuidade da utilização dos critérios de diagnóstico propostos pela Associ...
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