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词条 Pituitary stalk interruption syndrome
释义

  1. Presentation

  2. Cause

  3. Diagnosis

  4. Management

  5. Prognosis

  6. Epidemiology

  7. References

{{Infobox medical condition (new)|name=Pituitary stalk interruption syndrome (PSIS)|image=Hypophyse.png|alt=|caption=The location of the pituitary gland within the skull (indicated in orange)|symptoms=Hypoglycaemia, jaudice, micropenis, cryptorchidism, etc.|onset=|duration=|types=Congenital|causes=|risks=Genetic predisposition (relative(s) with the condition)|diagnosis=MRI scan|differential=|prevention=|treatment=Hormone replacement|medication=|prognosis=|frequency=Unclear, ~1,000 cases reported|deaths=|synonyms=Ectopic neurohypophysis|field=Endocrinology, neurology, neonatology, paediatrics|complications=Seizures, retarded physical and intellectual development, delayed puberty, death, etc.}}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 hypoglycaemia during the neonatal period, or with growth retardation during childhood (those diagnosed in the neonatal period appear to be affected by a particularly severe form of the disorder). PSIS is a common cause of congenital hypopituitarism, and causes a permanent growth hormone deficit. Some PSIS-affected individuals may also present with adrenal hypoplasia (5-29%), diabetes insipidus (5-29%), primary amenorrhea (5-29%), hypothyroidism (30-79%), failure to thrive (80-99%), septooptic dysplasia (5-29%), and Fanconi anaemia. PSIS may be isolated, or, commonly, present with extra-pituitary malformations.[1][2][3]

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, Caeserian 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 2 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]

References

1. ^1 2 3 4 {{Cite web | url = https://rarediseases.info.nih.gov/diseases/13209/pituitary-stalk-interruption-syndrome | title=Pituitary stalk interruption syndrome | work = Genetic and Rare Diseases Information Center (GARD) – an NCATS Program | publisher = U.S. National Institutes of Health |access-date=2018-08-11}}
2. ^1 2 3 4 5 {{cite journal | vauthors = Bar C, Zadro C, Diene G, Oliver I, Pienkowski C, Jouret B, Cartault A, Ajaltouni Z, Salles JP, Sevely A, Tauber M, Edouard T | display-authors = 6 | title = Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation | journal = PLOS One | volume = 10 | issue = 11 | pages = e0142354 | date = November 2015 | pmid = 26562670 | pmc = 4643020 | doi = 10.1371/journal.pone.0142354 }}
3. ^1 2 3 4 5 {{cite web | first = Raja | last = Brauner | name-list-format = vanc | url = https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=95496 | title = Pituitary stalk interruption syndrome | work = Orphanet |access-date=2018-08-11}}

4 : Congenital disorders of endocrine system|Congenital disorders of nervous system|Pituitary disorders|Syndromes affecting the endocrine system
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