Pituitary stalk interruption syndrome due to novel ROBO1 mutation presenting as combined pituitary hormone deficiency and central diabetes insipidus.
J Pediatr Endocrinol Metab
; 37(5): 477-481, 2024 May 27.
Article
en En
| MEDLINE
| ID: mdl-38444307
ABSTRACT
OBJECTIVES:
The genetic causes of pituitary stalk interruption syndrome (PSIS) remain elusive in 95â¯% of cases. The roundabout receptor-1 gene (ROBO1) plays critical roles in axonal guidance and cell migration. Recently, mutations in the ROBO1 gene have been reported patients with PSIS. CASE PRESENTATION We report a 2.9-year-old boy with PSIS who presented with combined pituitary hormone deficiency, central diabetes insipidus, and the classical triad of MRI findings. Through clinical exome sequencing using next-generation sequencing techniques, a previously unidentified novel heterozygous frame shift mutation in the ROBO1 gene was identified. This is the first report of ROBO1 mutation associated with posterior pituitary dysfunction.CONCLUSIONS:
We conclude and emphasize that ROBO1 should be investigated in patients with PSIS. Our case is unique in the published literature in that we are first time reporting posterior pituitary dysfunction as manifestation of ROBO1 mutation. The full clinical spectrum of the mutations may not be fully known.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Receptores Inmunológicos
/
Diabetes Insípida Neurogénica
/
Proteínas Roundabout
/
Hipopituitarismo
/
Mutación
/
Proteínas del Tejido Nervioso
Límite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
J Pediatr Endocrinol Metab
Asunto de la revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Año:
2024
Tipo del documento:
Article
País de afiliación:
India
Pais de publicación:
Alemania