Icke förvärvad kombinerad hypofyshormonbrist
Medfödd hypopituitarism kännetecknas av brist på flera hypofyshormoner, bland annat somatotrop, tyreotrop, laktotrop, kortikotrop eller gonadotrop brist, orsakad av mutationer i hypofysens transkriptionsfaktorer som är involverade i hypofysens ontogenes.
Även känd som
congenital combined pituitary hormone deficiency; congenital hypopituitarism
Inkluderar 28 relaterade undertyper ↓Dölj undertyper ↑
- alobar holoprosencephaly
- ANE syndrome
- chromosome 1q41-q42 deletion syndrome
- congenital hypothalamic hamartoma syndrome
- deficiency in anterior pituitary function - variable immunodeficiency syndrome
- holoprosencephaly
- holoprosencephaly 1
- holoprosencephaly 10
- holoprosencephaly 11
- holoprosencephaly 12 with or without pancreatic agenesis
- holoprosencephaly 13, X-linked
- holoprosencephaly 14
- holoprosencephaly 2
- holoprosencephaly 3
- holoprosencephaly 4
- holoprosencephaly 5
- holoprosencephaly 6
- holoprosencephaly 7
- holoprosencephaly 8
- holoprosencephaly 9
- lobar holoprosencephaly
- microform holoprosencephaly
- non-acquired combined pituitary hormone deficiency with spine abnormalities
- Pallister-Hall syndrome
- postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
- semilobar holoprosencephaly
- short stature-pituitary and cerebellar defects-small sella turcica syndrome
- solitary median maxillary central incisor syndrome
