| Autor: |
Jéssica Mallmann Erbes Schaefer Martins, Barbara Leitao Braga, Klevia Nunes Feitosa Sampaio, Tamires de Souza Garcia, Juliana Van de Sande Lee, Edson Cechinel, Genoir Simoni, Marilza Leal Nascimento, Paulo Cesar Alves da Silva, Maria C. V. Fragoso, Tania A. A. S. Bachega, Mirian Y. Nishi, Berenice B. Mendonca |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Archives of Endocrinology and Metabolism, Vol 68 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2359-4292 |
| DOI: |
10.20945/2359-4292-2022-0395 |
| Popis: |
SUMMARY Beckwith-Wiedemann syndrome (BWS) is a common genetic congenital disease characterized by somatic overgrowth and its broad clinical spectrum includes pre- and post-natal macrosomia, macroglossia, visceromegaly, increased risk of neonatal hypoglycemia, and development of embryonic tumors. BWS occurs due to genetic/epigenetic changes involving growth-regulating genes, located on region 11p15, with an important genotype-phenotype correlation. Congenital adrenal hyperplasia (CAH) comprises a spectrum of autosomal recessive diseases presenting a variety of clinical manifestations due to a deficiency in one of the enzymes involved in cortisol secretion. Early diagnosis based on newborn screening prevents the adrenal crisis and early infant death. However, high 17-hydroxyprogesterone (17-OHP) levels can occur in newborns or premature infants without CAH, in situations of stress due to maternal or neonatal factors. Here, we report new cases of false-positive diagnosis of 21-hydroxylase deficiency during newborn screening – two girls and one boy with BWS. Methylation-specific multiplex ligation-dependent probe amplification revealed a gain of methylation in the H19 differentially methylated region. Notably, all three cases showed a complete normalization of biochemical changes, highlighting the transient nature of these hormonal findings that imitate the classical form of CAH. This report sheds light on a new cause of false-positive 21-hydroxylase deficiency diagnosis during newborn screening: Beckwith-Wiedemann syndrome. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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