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(Reference retrieved automatically from SciELO through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Beckwith-Wiedemann syndrome mimicking the classical form of congenital adrenal hyperplasia in newborn screening

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Author(s):
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Jéssica Mallmann Erbes Schaefer Martins [1] ; Barbara Leitao Braga [2] ; Klevia Nunes Feitosa Sampaio [3] ; Tamires de Souza Garcia [4] ; Juliana Van de Sande Lee [5] ; Edson Cechinel [6] ; Genoir Simoni [7] ; Marilza Leal Nascimento [8] ; Paulo Cesar Alves da Silva [9] ; Maria C. V. Fragoso [10] ; Tania A. A. S. Bachega [11] ; Mirian Y. Nishi [12] ; Berenice B. Mendonca [13]
Total Authors: 13
Affiliation:
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[1] Hospital Infantil Joana de Gusmão - Brasil
[2] Faculdade de Medicina da Universidade de São Paulo. Hospital das Clínicas. Departamento de Endocrinologia do Desenvolvimento - Brasil
[3] Faculdade de Medicina da Universidade de São Paulo. Hospital das Clínicas. Departamento de Endocrinologia do Desenvolvimento - Brasil
[4] Hospital Infantil Joana de Gusmão - Brasil
[5] Hospital Infantil Joana de Gusmão - Brasil
[6] Hospital Infantil Joana de Gusmão - Brasil
[7] Hospital Infantil Joana de Gusmão - Brasil
[8] Universidade Federal de Santa Catarina - Brasil
[9] Hospital Infantil Joana de Gusmão - Brasil
[10] Faculdade de Medicina da Universidade de São Paulo. Hospital das Clínicas. Departamento de Endocrinologia do Desenvolvimento - Brasil
[11] Faculdade de Medicina da Universidade de São Paulo. Hospital das Clínicas. Departamento de Endocrinologia do Desenvolvimento - Brasil
[12] Faculdade de Medicina da Universidade de São Paulo. Hospital das Clínicas. Departamento de Endocrinologia do Desenvolvimento - Brasil
[13] Faculdade de Medicina da Universidade de São Paulo. Hospital das Clínicas. Departamento de Endocrinologia do Desenvolvimento - Brasil
Total Affiliations: 13
Document type: Journal article
Source: ARCHIVES OF ENDOCRINOLOGY METABOLISM; v. 68, 2024-06-10.
Abstract

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. (AU)

FAPESP's process: 22/06089-2 - COMPARISON OF THE GLOBAL METHYLATION PROFILES OF PATIENTS WITH SILVER-RUSSELL SYNDROME AND SMALL FOR GESTATIONAL AGE BORN WITH AND WITHOUT ATYPICAL GENITALY
Grantee:Barbara Leitao Braga
Support Opportunities: Scholarships in Brazil - Doctorate