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

Autor(es):Mostrar menos -

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]

Afiliação do(s) autor(es):Mostrar menos -

^[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

• Tipo de documento: Artigo Científico
• Fonte: ARCHIVES OF ENDOCRINOLOGY METABOLISM; v. 68, 2024-06-10.

Resumo

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)

• Processo FAPESP: 22/06089-2 - Comparação do padrão de metilação global em pacientes com a síndrome de silver-russell e nascidos pequenos para a idade gestacional com e sem genitália atípica
• Beneficiário: Barbara Leitao Braga
• Modalidade de apoio: Bolsas no Brasil - Doutorado