Notas Clínicas
Hipoplasia adrenal, hipogonadismo y talla baja por una nueva mutación del gen DAX-1 (pGly168fsX17)
Gene as a cause of adrenal hypoplasia, hypogonadism and short height novel mutation of DAX-1 gene (pgly168fsx17)
O. Pérez Rodrígueza,
, J.L. Ruibal Franciscoa,
, L. Loidi Fernández de Trocónizc, S. Parajes Castroc, P. Martín Rojas-Marcosb
Autor para correspondencia
olgaperezrodriguez@yahoo.es
Correspondencia: Dres. O. Pérez Rodríguez y J.L. Ruibal Francisco. Departamento de Pediatría. Hospital Clínico San Carlos. Prof. Martín Lagos, s/n. 28040 Madrid. España.
Correspondencia: Dres. O. Pérez Rodríguez y J.L. Ruibal Francisco. Departamento de Pediatría. Hospital Clínico San Carlos. Prof. Martín Lagos, s/n. 28040 Madrid. España.
Autor para correspondencia
ruibaljl@yahoo.es
Correspondencia: Dres. O. Pérez Rodríguez y J.L. Ruibal Francisco. Departamento de Pediatría. Hospital Clínico San Carlos. Prof. Martín Lagos, s/n. 28040 Madrid. España.
Correspondencia: Dres. O. Pérez Rodríguez y J.L. Ruibal Francisco. Departamento de Pediatría. Hospital Clínico San Carlos. Prof. Martín Lagos, s/n. 28040 Madrid. España.
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"apellidos" => "Pérez Rodríguez" "email" => array:1 [ 0 => "olgaperezrodriguez@yahoo.es" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff1" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">¿</span>" "identificador" => "cor1" ] ] ] 1 => array:4 [ "nombre" => "J.L." "apellidos" => "Ruibal Francisco" "email" => array:1 [ 0 => "ruibaljl@yahoo.es" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff1" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">¿</span>" "identificador" => "cor1" ] ] ] 2 => array:3 [ "nombre" => "L." "apellidos" => "Loidi Fernández de Trocóniz" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff3" ] ] ] 3 => array:3 [ "nombre" => "S." 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España" "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff3" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor1" "etiqueta" => "⁎" "correspondencia" => "Correspondencia: Dres. O. Pérez Rodríguez y J.L. Ruibal Francisco. Departamento de Pediatría. Hospital Clínico San Carlos. Prof. Martín Lagos, s/n. 28040 Madrid. España." ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Gene as a cause of adrenal hypoplasia, hypogonadism and short height novel mutation of <span class="elsevierStyleItalic">DAX-1</span> gene (pgly168fsx17)" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2005-09-30" "fechaAceptado" => "2006-02-28" "PalabrasClave" => array:2 [ "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec186355" "palabras" => array:5 [ 0 => "Hipoplasia adrenal congenital" 1 => "<span class="elsevierStyleItalic">DAX-1</span>" 2 => "Hipogonadismo hipogonadotropo" 3 => "Mutación" 4 => "Talla baja" ] ] ] "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Key words" "identificador" => "xpalclavsec186356" "palabras" => array:5 [ 0 => "Congenital adrenal hypoplasia" 1 => "<span class="elsevierStyleItalic">DAX-1</span>" 2 => "Hypogonadotropic hypogonadism" 3 => "Mutation" 4 => "Short stature" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "es" => array:1 [ "resumen" => "<p class="elsevierStyleSimplePara elsevierViewall">Varios genes intervienen en la morfogénesis de la corteza suprarrenal, entre ellos el gen <span class="elsevierStyleItalic">DAX-1</span>. Presentamos una nueva mutación del gen <span class="elsevierStyleItalic">DAX-1</span> en un varón de 18 años que padeció fracaso suprarrenal completo en el período neonatal, hipogonadismo hipogonadotropo y talla baja patológica.</p><p class="elsevierStyleSimplePara elsevierViewall">Ingresó a los 16 días por presentar un síndrome pierde-sal con hiperpotasemia. Se mantuvo sin tratamiento hasta los 2 años, cuando comenzó progresivamente con anorexia, avidez por la sal, desmedro, hiperpigmentación cutánea y finalmente choque, hipoglucemia, hiponatremia, acidosis metabólica e hiperpotasemia.</p><p class="elsevierStyleSimplePara elsevierViewall">Inició espontáneamente el desarrollo puberal, pero fue incompleto. Recibió tratamiento con testosterona-<span class="elsevierStyleItalic">depot</span>. El volumen testicular definitivo alcanzado fue de 6¦ml con una pubarquia V. Su talla final ha sido 150¦cm (talla diana 164¦cm).</p><p class="elsevierStyleSimplePara elsevierViewall">El estudio genético del gen <span class="elsevierStyleItalic">DAX-1</span> mostró la mutación g 2080-2081 ins a en la primera posición del codón 168, que produce una parada prematura de la proteína DAX en la posición 184.</p>" ] "en" => array:1 [ "resumen" => "<p class="elsevierStyleSimplePara elsevierViewall">Various genes play a role in the morphogenesis of the adrenal cortex, among them the <span class="elsevierStyleItalic">DAX-1</span> gene. We report an 18-year-old man who showed complete adrenal failure in the neonatal period, hypogonadotropic hypogonadism and pathological short stature associated with a mutation of the <span class="elsevierStyleItalic">DAX-1</span> gene that has not previously been described. The patient was admitted to hospital at the age of 16 days due to salt-losing syndrome with hyperpotassemia. After this episode, he received no treatment for 2 years, when he began to show progressive anorexia, salt avidity, asthenia, cutaneous hyperpigmentation and finally shock, with hypoglycemia, hyponatremia, metabolic acidosis and hyperpotassemia.</p><p class="elsevierStyleSimplePara elsevierViewall">Puberal development was spontaneous but incomplete. The patient received treatment with testosterone-depot. He reached a definitive testicular volume of 6 ml and pubarche V. His final height is 150 cm (target height 164¦cm).</p><p class="elsevierStyleSimplePara elsevierViewall">Amplification of the <span class="elsevierStyleItalic">DAX-1</span> gene showed mutation g 2080-2081 insertion in the first position of codon 168, which produces a premature shutdown of protein <span class="elsevierStyleItalic">DAX-1</span> at position 184.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "Bibliografía" "seccion" => array:1 [ 0 => array:1 [ "bibliografiaReferencia" => array:21 [ 0 => array:3 [ "identificador" => "bib1" "etiqueta" => "1." "referencia" => array:1 [ 0 => array:1 [ "referenciaCompleta" => "Mc-Cabe ERB. Adrenal hypoplasias and aplasias. En: Scriver. Beaudet. Valle. Sly. Childs. Kinzler. Vogelstein. The metabolic and molecular bases of inherited disease. 8.ª ed. Mc-Graw-Hill. 2001;167:4263-74." ] ] ] 1 => array:3 [ "identificador" => "bib2" "etiqueta" => "2." 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Información del artículo
ISSN: 16954033Idioma original: Español
DOI:10.1157/13089927
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