A Novel Pathogenic variant in NR0B1 gene associated with Congenital Adrenal Hypoplasia
Nueva Variante Patogénica en el Gen NR0B1 Asociada a Hipoplasia Adrenal Congénita
dc.contributor | en-US | |
dc.contributor | es-ES | |
dc.creator | Garcia Medina, Judith S. | |
dc.creator | Sarmiento-Ramón, Maria Paula | |
dc.creator | Lopera-Cañaveral, Maria V. | |
dc.creator | Zuluaga-Espinosa, Nora A. | |
dc.creator | Forero-Torres, Adriana C. | |
dc.creator | Toro-Ramon, Martin | |
dc.creator | Pineda-Trujillo, Nicolás | |
dc.date | 2022-08-18 | |
dc.identifier | http://www.revistachilenadepediatria.cl/index.php/rchped/article/view/4019 | |
dc.identifier | 10.32641/andespediatr.v93i4.4019 | |
dc.description | 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 identified 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. Conclusion: 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. | en-US |
dc.description | La hipoplasia adrenal congénita (HAC) ligada a X es una causa infrecuente de insuficiencia adrenal primaria (IAP). Las mutaciones en el gen NR0B1 provocan una pérdida de función en receptor DAX1, responsable de la activación de los genes implicados en el desarrollo y función del eje hipotálamo-hipófisis-adrenal-gonadal. Objetivo: Describir un caso de HAC secundaria a mutación en el gen NR0B1 y analizar los diagnósticos diferenciales del paciente pediátrico con insuficiencia adrenal e hipogonadismo hipogonadotropico. Caso Clínico: Paciente masculino de 4 años de edad, sin antecedentes relevantes, procedente de área rural. Ingresó a servicio de urgencia por cuadro de quince días de evolución de emesis, astenia, adinamia, mialgias y marcha atáxica. Al examen presentaba hipotensión arterial, hiperpigmentación de mucosas, genitales masculinos con criptorquidia bilateral. Hiponatremia e hiperkalemia. Se diagnosticó crisis adrenal y se inició reanimación hídrica con solución salina, hidrocortisona y fludrocortisona, con lo que se estabilizó. Se consideró posibilidad de IAP, se descartó hiperplasia adrenal congénita, etiología infecciosa, autoinmune y error innato del metabolismo. En examen de exoma clínico se identificó la variante “probablemente patogénica” c.1275A > T; p.Arg425Ser en el gen NR0B1 (Transcrito ENST00000378970.5) compatible con HAC ligada a X. Se continuó manejo con glucocorticoides y mineralocorticoides con evolución clínica favorable a 7 años de seguimiento. Conclusión: Se describe una nueva variante asociada a HAC ligada a X. Las variantes en el gen NR0B1 deben considerarse en el diagnóstico diferencial de un paciente varon con asociación de IAP e hipogonadismo. | es-ES |
dc.format | application/pdf | |
dc.format | application/pdf | |
dc.language | spa | |
dc.language | eng | |
dc.publisher | Sociedad Chilena de Pediatría | es-ES |
dc.relation | http://www.revistachilenadepediatria.cl/index.php/rchped/article/view/4019/4006 | |
dc.relation | http://www.revistachilenadepediatria.cl/index.php/rchped/article/view/4019/4188 | |
dc.relation | http://www.revistachilenadepediatria.cl/index.php/rchped/article/downloadSuppFile/4019/12791 | |
dc.relation | http://www.revistachilenadepediatria.cl/index.php/rchped/article/downloadSuppFile/4019/12792 | |
dc.relation | http://www.revistachilenadepediatria.cl/index.php/rchped/article/downloadSuppFile/4019/12798 | |
dc.relation | http://www.revistachilenadepediatria.cl/index.php/rchped/article/downloadSuppFile/4019/12804 | |
dc.relation | http://www.revistachilenadepediatria.cl/index.php/rchped/article/downloadSuppFile/4019/12847 | |
dc.rights | Copyright (c) 2022 Andes Pediatrica | es-ES |
dc.source | Revista Chilena de Pediatría; Vol. 93, Núm. 4 (2022): Julio - Agosto; 585-590 | en-US |
dc.source | Andes Pediatrica; Vol. 93, Núm. 4 (2022): Julio - Agosto; 585-590 | es-ES |
dc.source | 2452-6053 | |
dc.source | 2452-6053 | |
dc.subject | en-US | |
dc.subject | DAX1; NR0B; Adrenal Hypoplasia; Adrenal Insufficiency | en-US |
dc.subject | es-ES | |
dc.subject | DAX1; NR0B1; Hipoplasia Adrenal; Insuficiencia Adrena | es-ES |
dc.title | A Novel Pathogenic variant in NR0B1 gene associated with Congenital Adrenal Hypoplasia | en-US |
dc.title | Nueva Variante Patogénica en el Gen NR0B1 Asociada a Hipoplasia Adrenal Congénita | es-ES |
dc.type | info:eu-repo/semantics/article | |
dc.type | info:eu-repo/semantics/publishedVersion | |
dc.type | en-US | |
dc.type | es-ES |
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Revista Chilena de Pediatría
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