RESUMO
OBJECTIVE: Barth Syndrome (BTHS) is an X-linked multisystem disorder (OMIM 302060) usually diagnosed in infancy and characterized by cardiac problems [dilated cardiomyopathy (DCM) ± endocardial fibroelastosis (EFE) ± left ventricular non-compaction (LVNC)], proximal myopathy, feeding problems, growth retardation, neutropenia, organic aciduria and variable respiratory chain abnormalities. We wished to determine whether BTHS had a significant impact on fetal and perinatal health in a large cohort of family groups originating from a defined region. METHOD: Case note review on 19 families originating from the UK and known to the Barth Syndrome Service of the Bristol Royal Hospital for Children. RESULTS: Details are presented on six kindreds (32%) with genetically and biochemically proven BTHS that demonstrate a wider phenotype including male fetal loss, stillbirth and severe neonatal illness or death. In these families, 9 males were stillborn and 14 died as neonates or infants but there were no losses of females. BTHS was definitively proven in five males with fetal onset of DCM ± hydrops/EFE/LVNC. CONCLUSION: These findings stress the importance of considering BTHS in the differential diagnosis of unexplained male hydrops, DCM, EFE, LVNC or pregnancy loss, as well as in neonates with hypoglycemia, lactic acidosis and idiopathic mitochondrial disease.
Assuntos
Síndrome de Barth/genética , Cardiomiopatia Dilatada/genética , Cromossomos Humanos X/genética , Morte Fetal/genética , Doenças Fetais/genética , Natimorto/genética , Aciltransferases , Síndrome de Barth/epidemiologia , Síndrome de Barth/patologia , Biomarcadores/sangue , Cardiolipinas/sangue , Cardiomiopatia Dilatada/epidemiologia , Cardiomiopatia Dilatada/patologia , Estudos de Coortes , Fibroelastose Endocárdica/epidemiologia , Fibroelastose Endocárdica/genética , Fibroelastose Endocárdica/patologia , Feminino , Morte Fetal/epidemiologia , Doenças Fetais/epidemiologia , Doenças Fetais/patologia , Humanos , Miocárdio Ventricular não Compactado Isolado/epidemiologia , Miocárdio Ventricular não Compactado Isolado/genética , Miocárdio Ventricular não Compactado Isolado/patologia , Lisofosfolipídeos/sangue , Masculino , Linhagem , Análise de Sequência de DNA , Fatores Sexuais , Natimorto/epidemiologia , Fatores de Transcrição/genética , Reino Unido/epidemiologiaRESUMO
BACKGROUND: Polycystic ovaries are a common disorder associated with menstrual irregularities, subfertility, hirsutism, acne, and a range of endocrine abnormalities, including high concentrations of plasma luteinising hormone (LH) and excessive androgen production. The pathophysiology is not understood. We investigated whether the disorder originates during intrauterine life. METHODS: We examined 235 women aged 40-42 years who were born in Sheffield, UK. We related the prevalence of polycystic ovaries and the plasma concentrations of gonadotropin hormones and androgens to the women's body size at birth, and the length of gestation. FINDINGS: 49 (21%) of the women had polycystic ovaries. We defined two groups of women with the disorder, which correspond to the two groups that commonly present clinically. The first group comprised obese women who were androgenised, with higher than normal concentrations of plasma LH and testosterone. These women had above-average birthweight and were born to overweight mothers. The second group comprised women of normal weight who had high plasma LH, but normal testosterone concentrations. These women were born after term (40 weeks' gestation). INTERPRETATION: The two common forms of polycystic ovary syndrome have different origins in intrauterine life. Obese, hirsute women with polycystic ovaries have higher than normal ovarian secretion of androgens that are associated with high birthweight and maternal obesity. Thin women with polycystic ovaries have altered hypothalamic control of LH release resulting from prolonged gestation.
Assuntos
Peso ao Nascer , Desenvolvimento Embrionário e Fetal , Síndrome do Ovário Policístico/embriologia , Adulto , Peso Corporal , Estudos de Casos e Controles , Inglaterra/epidemiologia , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Hormônio Luteinizante/sangue , Síndrome do Ovário Policístico/epidemiologia , Gravidez , Prevalência , Testosterona/sangueRESUMO
OBJECTIVE: To determine whether age at menopause is related to size at birth. DESIGN: A follow-up study of two groups of women whose size at birth was recorded. SETTING: Hertfordshire and Sheffield, England. POPULATION: 755 women aged 60-71 years born in Hertfordshire; 235 women aged 40-42 years born in the Jessop Hospital, Sheffield. MAIN OUTCOME MEASURES: Age at natural menopause or serum follicle stimulating hormone concentration greater than 25 IU/ml. RESULTS: Age at menopause was unrelated to birth weight. However, it occurred at a younger age in women who had low weight at 1 year. This was independent of their body weight and smoking habits. In the population of younger women those who had had an early menopause tended to have been short at birth, with a high ponderal index (birth weight/length3). CONCLUSION: Growth retardation in late gestation, leading to shortness at birth and low weight gain in infancy, may be associated with a reduced number of primordial follicles in the ovary leading in turn to an earlier menopause.
