ABSTRACT
SUMMARY Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty (CPP) is very rare. This study aimed to report the clinical and biochemical follow-up of a PWS boy with CPP and to discuss the management of pubertal growth. By the age of 6, he had obesity, short stature, and many clinical criteria of PWS diagnosis, which was confirmed by DNA methylation test. Therapy with recombinant human growth hormone (rhGH) replacement (0.15 IU/kg/day) was started. Later, he presented psychomotor agitation, aggressive behavior, and increased testicular volume. Laboratory analyses were consistent with the diagnosis of CPP (gonadorelin-stimulated LH peak 15.8 IU/L, testosterone 54.7 ng/dL). The patient was then treated with gonadotropin-releasing hormone analog (GnRHa). Hypothalamic dysfunctions have been implicated in hormonal disturbances related to pubertal development, but no morphologic abnormalities were detected in the present case. Additional methylation analysis (MS-MLPA) of the chromosome 15q11 locus confirmed PWS diagnosis. We presented the fifth case of CPP in a genetically-confirmed PWS male. Combined therapy with GnRHa and rhGH may be beneficial in this rare condition of precocious pubertal development in PWS.
Subject(s)
Humans , Male , Child , Prader-Willi Syndrome/drug therapy , Puberty, Precocious/drug therapy , Gonadotropin-Releasing Hormone/therapeutic use , Human Growth Hormone/therapeutic use , Prader-Willi Syndrome/diagnosis , Prader-Willi Syndrome/genetics , Puberty, Precocious/complications , Recombinant Proteins/adverse effects , Recombinant Proteins/therapeutic use , DNA Methylation , Hormone Replacement Therapy/methodsABSTRACT
A lipodistrofia associada ao HIV (LAHIV) acomete 40 por cento a 50 por cento dos pacientes infectados pelo vírus, mas sua prevalência no Brasil é desconhecida. O objetivo deste trabalho foi avaliar a prevalência de LAHIV entre adultos brasileiros infectados, bem como sua relação com fatores de risco cardiovascular e síndrome metabólica (SM). Foram avaliados 180 pacientes maiores de 18 anos, infectados por HIV, atendidos no Ambulatório de Infectologia da Universidade Estadual de Londrina. Por meio de entrevista e revisão de prontuário, foram avaliados dados antropométricos, pressão arterial, antecedentes mórbidos pessoais e familiares, duração da infecção por HIV e da aids, drogas anti-retrovirais utilizadas, CD4+, carga viral, glicemia e perfil lipídico. A LAHIV foi definida como a presença de alterações corporais percebidas pelo próprio paciente e confirmadas ao exame clínico. A SM foi diagnosticada usando os critérios do Adult Treatment Panel III (NCEP-ATPIII), revistos e atualizados pela American Heart Association (AHA/NHLBI). A prevalência observada de LAHIV foi de 55 por cento. Os pacientes com LAHIV apresentaram maior duração da infecção por HIV, da aids e do uso de anti-retrovirais. Na análise multivariada, estiveram independentemente associados ao risco de LAHIV: sexo feminino (p = 0,006) e duração da aids > 8 anos (p < 0,001). Quanto aos critérios para SM, hipertensão foi detectada em 32 por cento, baixo HDL-colesterol em 68 por cento, hipertrigliceridemia em 55 por cento, cintura aumentada em 17 por cento e glicemia aumentada e/ou diabetes em 23 por cento dos indivíduos. A cintura aumentada e a hipertrigliceridemia foram mais comuns em portadores de LAHIV. A SM foi identificada em 36 por cento dos pacientes. Na análise multivariada, estiveram associados à SM: IMC > 25 kg/m² (p < 0,001), história familiar de obesidade (p = 0,01), uso de indinavir (p = 0,001) e idade > 40 anos no diagnóstico do HIV (p = 0,002). A LAHIV apresentou...
Lipodystrophy in HIV-infected patients (LDHIV) affects 40-50 percent of HIV-infected patients, but there are no data on its prevalence in Brazil. The aim of this study was to assess the LDHIV prevalence among HIV-infected adult Brazilian individuals, as well as to evaluate LDHIV association with cardiovascular risk factors and the metabolic syndrome (MS). It was included 180 adult HIV-infected outpatients consecutively seen in the Infectology Clinic of Universidade Estadual de Londrina. Anthropometric and clinical data (blood pressure, family and personal comorbidities, duration of HIV infection/AIDS, antiretroviral drugs used, CD4+ cells, viral load, fasting glycemia and plasma lipids) were obtained both from a clinical interview as well as from medical charts. LDHIV was defined as the presence of body changes self-reported by the patients and confirmed by clinical exam. MS was defined using the NCEP-ATPIII criteria, reviewed and modified by AHA/NHLBI. A 55 percent prevalence of LDHIV was found. Individuals with LDHIV presented a longer infected period since HIV infection, longer AIDS duration and longer use of antiretroviral drugs. In multivariate analysis, women (p=0.006) and AIDS duration >8 years (p<0.001) were independently associated with LDHIV. Concerning MS diagnostic criteria, high blood pressure was found in 32 percent, low HDL-cholesterol in 68 percent, hypertriglyceridemia in 55 percent, altered waist circumference in 17 percent and altered glycemia and/or diabetes in 23 percent of individuals. Abnormal waist and hypertriglyceridemia were more common in LDHIV-affected individuals. MS was diagnosed in 36 percent. In multivariate analysis, the factors associated with MS were: BMI >25Kg/m² (p<0.001), family history of obesity (p=0.01), indinavir (p=0.001) and age >40 years on HIV first detection (p=0.002). There was a trend to higher frequency of LDHIV among patients with MS (65 percent versus 50 percent, p=0.051). LDHIV prevalence...