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[A Novel Pathogenic variant in NR0B1 gene associated with Congenital Adrenal Hypoplasia]. / Nueva Variante Patogénica en el Gen NR0B1 Asociada a Hipoplasia Adrenal Congénita.
García-Medina, Judith S; Sarmiento-Ramón, María Paula; Lopera-Cañaveral, María V; Zuluaga-Espinosa, Nora A; Forero-Torres, Adriana C; Toro-Ramos, Martín; Pineda-Trujillo, Nicolás.
Afiliação
  • García-Medina JS; Universidad de Antioquia, Medellín, Colombia.
  • Sarmiento-Ramón MP; Universidad de Antioquia, Medellín, Colombia.
  • Lopera-Cañaveral MV; Universidad de Antioquia, Medellín, Colombia.
  • Zuluaga-Espinosa NA; Universidad de Antioquia, Medellín, Colombia.
  • Forero-Torres AC; Universidad de Antioquia, Medellín, Colombia.
  • Toro-Ramos M; IPS Universitaria, Medellín, Colombia.
  • Pineda-Trujillo N; Universidad de Antioquia, Medellín, Colombia.
Andes Pediatr ; 93(4): 585-590, 2022 Aug.
Article em Es | MEDLINE | ID: mdl-37906859
ABSTRACT
X-linked adrenal hypoplasia congenita is a rare cause of primary adrenal insufficiency. Mutations in the NR0B1 gene cause a loss of function in the DAX1 receptor, which activates genes involved in the development and function of the hypothalamic-pituitary-gonadal axis.

Objective:

To describe a case of adrenal hypoplasia congenita secondary to a mutation in the NR0B1 gene and identified the differential diagnoses of the pediatric patient with adrenal insufficiency and hypogonadotropic hypogonadism. Clinical Case A 4-year-old male patient with no relevant history and from a rural area was admitted to the emergency room due to a 15-days of emesis, asthenia, adynamia, myalgia, and ataxic gait. On the physical examination, hypotension, hyponatremia, and hyperkalemia, as well as mucosal hyperpigmentation and bilateral cryptorchidism were observed, therefore, adrenal crisis was diagnosed, starting fluid resuscitation with saline solution, hydrocortisone, and fludrocortisone, which stabilized the patient. Adrenal hyperplasia congenita, innate metabolic error, and infectious or autoimmune etiology were ruled out as etiology. A clinical exome test was performed which iden tified the variant c.1275A > T; p.Arg425Ser (Transcript ENST00000378970.5) in the NR0B1 gene consistent with X-linked adrenal hypoplasia congenita. Management of the patient continued with glucocorticoids and mineralocorticoids with favorable clinical course at 7 years of follow-up. Con clusion A novel pathogenic variant associated with X-linked adrenal hypoplasia is described. Variants in the NR0B1 gene should be a differential diagnosis in a male patient with the association of primary adrenal insufficiency and hypogonadism.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Addison / Insuficiência Adrenal / Doenças Genéticas Ligadas ao Cromossomo X Limite: Child, preschool / Humans / Male Idioma: Es Revista: Andes Pediatr Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Colômbia

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Addison / Insuficiência Adrenal / Doenças Genéticas Ligadas ao Cromossomo X Limite: Child, preschool / Humans / Male Idioma: Es Revista: Andes Pediatr Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Colômbia