Pituitary stalk interruption syndrome
| Pituitary stalk interruption syndrome (PSIS) | |
|---|---|
| Other names | Ectopic neurohypophysis |
Congenital | |
| Risk factors | Genetic predisposition (relative(s) with the condition) |
| Diagnostic method | MRI scan |
| Treatment | Hormone replacement |
| Frequency | Unclear, ~1,000 cases reported |
Pituitary stalk interruption syndrome (PSIS) is a congenital disorder characterised by the triad of an absent or exceedingly thin pituitary stalk, an ectopic or absent posterior pituitary and/or absent or hypoplastic anterior pituitary.[1][2]
Presentation
Affected individuals may present with
PSIS features in neonates (may) include:[1][2][3]
- hypoglycaemia (30–79%)
- (prolonged) jaundice
- micropenis (30–79%)
- cryptorchidism (5–29%)
- delayed intellectual development
- death in infancy (5–29%)
- congenital abnormalities
PSIS features in later childhood (may) include:[1][2][3]
- short stature (80–99%)
- seizures(5–29%)
- hypotension
- delayed intellectual development
- delayed puberty (30–79%)
PSIS is associated with a higher frequency of breech presentation, caesarean section, and/or low Apgar score, though these are likely consequences rather than causes.[3]
Cause
The cause of the condition is as of yet unknown. Rare genetic mutations may cause familial cases, however, these account for less than 5% of cases.[2]
Diagnosis
The diagnosis is confirmed through MRI.[2]
Management
Treatment should commence as soon as a diagnosis is established to avoid complications, and consists of hormone replacement, particularly with growth hormone.[1]
Prognosis
Prognosis is generally good in cases of prompt diagnosis and management. Delays may lead to seizures (due to hypoglycaemia), hypotension (due to cortisol deficiency), and/or intellectual disability (due to thyroid endocrine deficits). Due to the before-mentioned factors, mortality and morbidity is higher than that of the general population, particularly during the first two years of life.[3]
Epidemiology
The prevalence of PSIS is unknown, however, some 1,000 cases have been reported either with or without the full triad.[3]