Hipoplasia adrenal, hipogonadismo y talla baja por una nueva mutación del gen DAX-1 (pGly168fsX17)

Pérez Rodríguez, O.; Ruibal Francisco, J.L.; Loidi Fernández de Trocóniz, L.; Parajes Castro, S.; Martín Rojas-Marcos, P.

doi:10.1157/13089927

Anales de Pediatría

ISSN: 1695-4033

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In Memoriam: Alfredo García-Alix (1956-2024)

Indexada en:

Index Medicus/Medline IBECS, IME, SCOPUS, Science Citation Index Expanded, Journal Citations Report, Embase/Excerpta Medica, Directory of Open Access Journals (DOAJ)

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.

Inició espontáneamente el desarrollo puberal, pero fue incompleto. Recibió tratamiento con testosterona-depot. El volumen testicular definitivo alcanzado fue de 6¦ml con una pubarquia V. Su talla final ha sido 150¦cm (talla diana 164¦cm).

El estudio genético del gen DAX-1 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.

Palabras clave:

Hipoplasia adrenal congenital

DAX-1

Hipogonadismo hipogonadotropo

Mutación

Talla baja

Various genes play a role in the morphogenesis of the adrenal cortex, among them the DAX-1 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 DAX-1 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.

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).

Amplification of the DAX-1 gene showed mutation g 2080-2081 insertion in the first position of codon 168, which produces a premature shutdown of protein DAX-1 at position 184.

Key words:

Congenital adrenal hypoplasia

DAX-1

Hypogonadotropic hypogonadism

Mutation

Short stature

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