Endocrinology · Endocrinology / Pituitary disorders
Pituitary stalk interruption syndrome
also: PSIS
Thin or interrupted pituitary stalk with ectopic posterior pituitary.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Pituitary disorders
- Sex & age distribution
- Male: affected, more common; Female: affected; Children: yes, childhood
- Gene(s) involved
- CDON, GPR161, HESX1, LHX4, OTX2, PROKR2, SOX3
- Alternative names & eponyms
- PSIS
Etiology & mechanism
Developmental pituitary defect.
Gene(s) involved (7)
Symptoms & signs (5)
In plain terms, someone with Pituitary stalk interruption syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Aarskog–Scott syndrome
delayed puberty, short stature
2 shared
Mauriac syndrome
delayed puberty, short stature
2 shared
Septo-optic dysplasia
growth hormone deficiency, hypoglycemia
2 shared
Silver–Russell syndrome
hypoglycemia, short stature
1 shared
3M syndrome
short stature
1 shared
Acute fatty liver of pregnancy syndrome
hypoglycemia
1 shared
Andersen–Tawil syndrome
short stature
1 shared
Bloom syndrome
short stature
1 shared
Börjeson–Forssman–Lehmann syndrome
short stature
1 shared
Cardio-facio-cutaneous syndrome
short stature
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