Rare Infectious Disease News

Disease Profile

Pituitary stalk interruption syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Ectopic neurohypophysis; PSIS

Categories

Congenital and Genetic Diseases; Endocrine Diseases

Summary

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 HESX1LHX4OTX2SOX3, 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]

Symptoms

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.

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

Learn more

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.

References

  1. Pituitary stalk interruption syndrome. Orphanet. 2010; https://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/.