Deficiță combinată de hormoni hipofizari non-dobândită
Hipopituitarismul congenital se caracterizează prin deficiența multiplă de hormoni hipofizari, inclusiv deficiențe ale somatotrofelor, tirotrofelor, lactotrofelor, corticotrofelor sau gonadotrofelor, cauzate de mutații ale factorilor de transcripție hipofizari implicați în ontogeneza hipofizei.
Denumită și
congenital combined pituitary hormone deficiency; congenital hypopituitarism
Include 28 subtipuri înrudite ↓Ascunde subtipurile ↑
- 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
