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Pituitary stalk interruption syndrome


Other Names:
Ectopic neurohypophysis; PSIS
Categories:
Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary gland  characterized by the triad of a very thin or interrupted pituitary stalk, a misplaced (ectopic) or absent posterior pituitary and a small or absent anterior pituitary, with permanent growth hormone (GH) deficit.[1][2] Signs and symptoms in newborns include low blood sugar levels (hypoglycemia), jaundice, congenital abnormalities and small penis (micropenis) and/or testis that are not in the scrotal sac (cryptorchidism). Later in childhood, signs may include short stature, seizures, low arterial pressure (hypotension) and/or intellectual delay.[1] Some people can also have vision problems (septooptic dysplasia) and Fanconi anemia. The cause of this condition is unknown.  Rare mutations in the HESX1, LHX4, OTX2, SOX3, and PROKR2 genes can be the cause in familial cases.[2][3] The diagnosis is confirmed through MRI showing the characteristic findings. Treatment is based on replacement of deficient hormones, particularly GH, and should be started at birth to avoid hormone deficiencies and intellectual delay.[1][3]
Last updated: 1/28/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Ectopic posterior pituitary 0011755
80%-99% of people have these symptoms
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Short stature
Decreased body height
Small stature
[ more ] 		0004322
30%-79% of people have these symptoms
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] 		0000823
Hypoglycemia
Low blood sugar
0001943
Hypoplasia of penis
Underdeveloped penis
0008736
Hypothyroidism
Underactive thyroid
0000821
5%-29% of people have these symptoms
Adrenal hypoplasia
Small adrenal glands
0000835
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Death in infancy
Infantile death
Lethal in infancy
[ more ] 		0001522
Diabetes insipidus 0000873
Global developmental delay 0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Primary amenorrhea 0000786
Seizure 0001250
Septo-optic dysplasia 0100842
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Last updated: 7/1/2020

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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  1. Pituitary stalk interruption syndrome. Orphanet. 2010; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=95496.
  2. Gutch M, Kumar S, Razi SM, Saran S, Gupta KK. Pituitary stalk interruption syndrome: Case report of three cases with review of literature. Journal of Pediatric Neurosciences. 2014; 9(2):188-191. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4166852/.
  3. Bar C & cols. Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation. de Herder W, ed. PLoS ONE. 2015; 10(11):e0142354. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4643020/.