RESUMO
OBJECTIVE: We aimed to find out the incidence of primary congenital hypothyroidism (CH) among infants born within the Riyadh Al-Kharj Hospital Programme in addition to early detection and treatment of these infants. DESIGN: All babies born within the Riyadh Al-Kharj Hospital Programme were screened by cord blood TSH. Blood spot TSH were done in the majority of infants between 2 and 5 days after birth. All suspected cases were recalled for confirmatory tests. 123I thyroid scan and X-ray of the knee and maternal blood for thyroid antibodies were done for confirmed cases. MEASUREMENTS: A cut off TSH level of 30 mIU/l for cord blood and 25 mIU/l for spot blood were used. All samples were assayed by immunoassay methods. RESULTS: 44,778 (99.4% of the total births) infants were screened. Twenty-five cases were detected, four of which were excluded. The incidence of primary congenital hypothyroidism was 1/2096. Five cases were missed on the initial screen. Eight out of 17 children who had 123I thyroid scan were found to have dyshormonogenesis. Associated malformation and diseases were diagnosed in 42.85%. Two had chromosomal anomalies; ring chromosome 9 has not been previously reported in association with congenital hypothyroidism. CONCLUSION: The incidence of congenital hypothyroidism, dyshormonogenesis and the associated malformations and diseases are higher than those reported in the literature. Cord blood as a screening method is associated with a significant number of missed cases.
Assuntos
Hipotireoidismo Congênito , Hipotireoidismo/epidemiologia , Triagem Neonatal/métodos , Feminino , Sangue Fetal/química , Humanos , Hipotireoidismo/diagnóstico , Hipotireoidismo/diagnóstico por imagem , Incidência , Recém-Nascido , Radioisótopos do Iodo , Masculino , Valor Preditivo dos Testes , Cintilografia , Arábia Saudita/epidemiologia , Glândula Tireoide/diagnóstico por imagem , Tireotropina/sangueAssuntos
Álcoois Graxos/efeitos adversos , Hemorragia/induzido quimicamente , Doença da Membrana Hialina/tratamento farmacológico , Recém-Nascido de Baixo Peso , Pneumopatias/induzido quimicamente , Fosforilcolina , Polietilenoglicóis/efeitos adversos , Surfactantes Pulmonares/efeitos adversos , Combinação de Medicamentos , Humanos , Recém-NascidoAssuntos
Aborto Retido , Doenças em Gêmeos , Displasia Ectodérmica , Feminino , Feto , Humanos , Recém-Nascido , GravidezRESUMO
Cystic fibrosis (CF) is generally believed to be rare or nonexistent in Saudi Arabia. The aim of this report is to document the occurrence of CF in Saudi Arabia. Thirteen Saudi children were diagnosed as having CF, evidenced by typical clinical features and elevated sweat chloride concentrations (greater than 60 mmol/l). Duration of symptoms prior to diagnosis varied from 1 month-5 years (mean 23 months). The main clinical manifestations of the children were abdominal distention, failure to thrive, steatorrhoea, hepatomegaly, rectal prolapse and recurrent respiratory infections, often with Pseudomonas aeruginosa. In addition, eight patients with symptoms and a family history highly suggestive of CF, but without confirmatory sweat test results are presented. We hope that this report will increase the awareness of CF and ensure an earlier diagnosis of the disease in Saudi Arabia.
