ABSTRACT
The Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is characterized by a near-total congenital absence of fat and predisposition to develop diabetes mellitus. We have previously reported that 22 patients from 16 consanguineous pedigrees living in the northeastern region of Brazil had a homozygous 669insA mutation in the Seipin gene (BSCL2 locus), while all of the 10 investigated subjects from the southeastern region were homozygous for a 1036 bp deletion in the AGPAT2 gene (BSCL1 locus). In this study, we compared the serum insulin and insulin resistance (HOMA), leptin, triglyceride and fasting glucose levels in individuals of these two genetically distinct clusters of BSCL subjects. The onset of diabetes was also estimated. The fasting glucose and triglyceride levels were not significantly different in these groups. Significant differences were detected for leptin, insulin and insulin resistance. BSCL1 patients presented lower serum leptin levels compared to BSCL2 patients. BSCL2 subjects had earlier onset of diabetes and higher insulin levels. In agreement, BSCL2 patients were more insulin resistant, as detected by HOMA. These results indicate phenotypic heterogeneity between BSCL1 and BSCL2 Brazilian subjects.
Subject(s)
Diabetes Mellitus, Lipoatrophic/diagnosis , Diabetes Mellitus, Lipoatrophic/genetics , GTP-Binding Protein gamma Subunits/genetics , Adolescent , Adult , Blood Glucose/metabolism , Brazil , Child , Consanguinity , Female , Glucose/metabolism , Homozygote , Humans , Insulin/metabolism , Leptin/metabolism , Male , Mutation , Phenotype , Polymorphism, Restriction Fragment Length , Syndrome , Time Factors , Triglycerides/metabolismABSTRACT
OBJECTIVE: To present the major clinical and biochemical characteristics of congenital generalized lipodystrophy. DESCRIPTION: Eight infants with congenital generalized lipodystrophy were identified at the Endocrine and Nutritional Pediatric Disease Outpatient Clinics at Hospital de Clínicas, Universidade Federal de Minas Gerais (UFMG). Clinical manifestations common to all patients included muscle hypertrophy, generalized lipoatrophy, and acromegalic physical appearance. Acanthosis nigricans was identified in five patients, hepatosplenomegaly in six, hypertriglyceridemia and low levels of HDL cholesterol in seven, cardiac hypertrophy in one and diabetes mellitus in two patients. All patients are under dietetic and clinical control. COMMENTS: The phenotypic characteristics of congenital generalized lipodystrophy are well identified, which, in most cases, favors the clinical diagnosis. The congenital generalized lipodystrophy is a very unusual syndrome that illustrates the importance of the adipose tissue for the majority of metabolic processes. A better understanding of this syndrome may open new horizons in the research of more prevalent diseases such as diabetes mellitus and obesity.
Subject(s)
Diabetes Mellitus, Lipoatrophic/congenital , Acromegaly/congenital , Acromegaly/diagnosis , Acromegaly/genetics , Adolescent , Child , Child, Preschool , Diabetes Mellitus, Lipoatrophic/diagnosis , Diabetes Mellitus, Lipoatrophic/genetics , Female , Humans , Hypertrophy , Infant , Male , Muscles/pathology , SyndromeABSTRACT
OBJETIVO: Apresentar as principais características clínicas e bioquímicas da lipodistrofia generalizada congênita, desordem rara e pouco conhecida dos pediatras. DESCRIÇAO: Nos ambulatórios de Doenças Nutricionais e de Endocrinologia do Serviço de Pediatria do Hospital das Clínicas da UFMG, foram identificados oito pacientes com lipodistrofia generalizada congênita. As características clínicas comuns a todos os casos foram hipertrofia muscular, lipoatrofia generalizada e aparência acromegálica. Manifestações clínico-laboratoriais associadas incluíram acantose nigricans em cinco pacientes, hepatoesplenomegalia em seis, hipertrigliceridemia com baixas concentrações de HDL em sete, hipertrofia cardíaca em um e diabetes melito secundário em dois pacientes. Todos os pacientes estão em controle clínico e dietético, visando à correção ou prevenção dos distúrbios metabólicos. COMENTARIOS: As características fenotípicas da lipodistrofia generalizada congênita são bem identificadas, possibilitando o diagnóstico clínico na maioria dos casos. Trata-se de uma síndrome rara que ilustra a importância do funcionamento normal do tecido adiposo para a maioria dos processos metabólicos vitais do organismo. O seu melhor conhecimento poderá abrir novos horizontes em estudos de doenças mais prevalentes como o diabetes melito e a obesidade.
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Diabetes Mellitus, Lipoatrophic/congenital , Acromegaly/congenital , Acromegaly/diagnosis , Acromegaly/genetics , Diabetes Mellitus, Lipoatrophic/diagnosis , Diabetes Mellitus, Lipoatrophic/genetics , Hypertrophy , Muscles/pathology , SyndromeABSTRACT
Se presenta el caso de una paciente portadora de diabetes lipoatrófica generalizada con éxito reproductivo. Se analiza el tratamiento metabólico y el manejo perinatal. La instalación de infección intraamniótica determinó la interrupción del embarazo a las 28 semanas, con recién nacido de pretérmino adecuado para la edad gestacional, que evolucionó con distrés respiratorio prolongado, hemorragia subaracnoidea y enterocolitis necrotizante. El seguimiento al sexto mes de vida revela examen neurológico normal.