RESUMEN
No disponible
Asunto(s)
Humanos , Femenino , Niño , Poliendocrinopatías Autoinmunes/diagnóstico , Candidiasis Mucocutánea Crónica/diagnóstico , Hipoparatiroidismo/diagnóstico , Insuficiencia Renal Crónica/diagnósticoRESUMEN
AIM: The aim of the study was to identify patients with transitory elevation (TE) of 17-hydroxyprogesterone (17-OHP) using neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD) and to compare them with patients with 21-OHD. METHODS: This was a retrospective study of patients with high 17-OHP levels detected during newborn screening in Madrid, Spain. RESULTS: 17-OHP levels were significantly higher in the 33 21-OHD patients, who tended to present hyponatraemia and hyperkalemia. The TE-17-OHP group was characterized by normal initial physical examination (88.8% vs. 39.4%), lower gestational age and a higher number of stressful perinatal factors. 17-OHP levels decreased spontaneously in this group. Molecular diagnosis allowed us to discard the most frequent mutations associated with 21-OHD. CONCLUSIONS: Newborns with slightly increased 17-OHP levels and normal results for physical examination, acid-base equilibrium, glycemia, electrolytes and perinatal stress factors should be carefully evaluated. Decisions on treatment should be postponed until these results are available.
Asunto(s)
17-alfa-Hidroxiprogesterona/sangre , Hiperplasia Suprarrenal Congénita/diagnóstico , Tamizaje Neonatal/métodos , Hiperplasia Suprarrenal Congénita/sangre , Pruebas de Química Clínica , Análisis Mutacional de ADN , Femenino , Humanos , Recién Nacido , Masculino , Mutación , Estudios Retrospectivos , Esteroide 21-Hidroxilasa/sangre , Esteroide 21-Hidroxilasa/genéticaRESUMEN
To determine if variants in the melanocortin-4 receptor (MC4R) gene are associated with premature pubarche (PP) in children and hyperandrogenism (HA) in adolescent girls, we performed single-strand conformational polymorphism (SSCP) in 75 children (69 girls/six boys) with PP, 53 adolescent girls with HA, and 95 healthy adult control subjects. DNA sequence analysis of the conformers identified by SSCP revealed variants in six patients (two silent and one missense) and in none of the control subjects.
