Publications by authors named "Maria B Roldan-Martin"
Article Synopsis
- An 11-year-old white boy had stomach pain, diarrhea, tiredness, vomiting, and fever recently.
- He went to the hospital because he was really dehydrated and in shock.
- Doctors found out that he has Addison's disease, which is a condition affecting his hormones.
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.
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.
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