Pituitary stalk interruption syndrome: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Pituitary stalk interruption syndrome | |||
| image = [[File:Hypophyse.png|250px]] | |||
| caption = Diagram of the pituitary gland | |||
| synonyms = PSIS | |||
| pronounce = | |||
| specialty = [[Endocrinology]] | |||
| symptoms = [[Growth hormone deficiency]], [[hypogonadotropic hypogonadism]], [[hypothyroidism]], [[adrenal insufficiency]] | |||
| complications = [[Delayed puberty]], [[infertility]], [[osteoporosis]] | |||
| onset = Congenital | |||
| duration = Lifelong | |||
| types = | |||
| causes = [[Congenital disorder]] | |||
| risks = | |||
| diagnosis = [[Magnetic resonance imaging|MRI]], [[hormonal assay]] | |||
| differential = [[Septo-optic dysplasia]], [[Kallmann syndrome]] | |||
| prevention = | |||
| treatment = [[Hormone replacement therapy]] | |||
| medication = [[Growth hormone]], [[thyroid hormone]], [[corticosteroids]], [[sex hormones]] | |||
| prognosis = Variable, depending on severity and treatment | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Other Names:''' Ectopic neurohypophysis; PSIS | '''Other Names:''' Ectopic neurohypophysis; PSIS | ||
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. | 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. | ||
== '''Epidemiology''' == | == '''Epidemiology''' == | ||
The prevalence of PSIS is unknown, however, some 1,000 cases have been reported either with or without the full triad. | The prevalence of PSIS is unknown, however, some 1,000 cases have been reported either with or without the full triad. | ||
== '''Cause''' == | == '''Cause''' == | ||
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. | 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. | ||
== '''Signs and symptoms''' == | == '''Signs and symptoms''' == | ||
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. Some people can also have vision problems (septooptic [[dysplasia]]) and [[Fanconi anemia]]. | 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. Some people can also have vision problems (septooptic [[dysplasia]]) and [[Fanconi anemia]]. | ||
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. | For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. | ||
100% of people have these symptoms | 100% of people have these symptoms | ||
* [[Ectopic]] posterior pituitary | * [[Ectopic]] posterior pituitary | ||
80%-99% of people have these symptoms | 80%-99% of people have these symptoms | ||
* Failure to thrive(Faltering weight) | * Failure to thrive(Faltering weight) | ||
* Short stature(Decreased body height) | * Short stature(Decreased body height) | ||
30%-79% of people have these symptoms | 30%-79% of people have these symptoms | ||
* Delayed puberty(Delayed pubertal development) | * Delayed puberty(Delayed pubertal development) | ||
| Line 25: | Line 42: | ||
* [[Hypoplasia]] of penis(Underdeveloped penis) | * [[Hypoplasia]] of penis(Underdeveloped penis) | ||
* [[Hypothyroidism]](Underactive thyroid) | * [[Hypothyroidism]](Underactive thyroid) | ||
5%-29% of people have these symptoms | 5%-29% of people have these symptoms | ||
* Adrenal [[hypoplasia]](Small adrenal glands) | * Adrenal [[hypoplasia]](Small adrenal glands) | ||
| Line 36: | Line 52: | ||
* [[Seizure]] | * [[Seizure]] | ||
* Septo-optic [[dysplasia]] | * Septo-optic [[dysplasia]] | ||
== '''Diagnosis''' == | == '''Diagnosis''' == | ||
The diagnosis is confirmed through [[MRI]] showing the characteristic findings. | The diagnosis is confirmed through [[MRI]] showing the characteristic findings. | ||
== '''Treatment''' == | == '''Treatment''' == | ||
Treatment is based on replacement of deficient hormones, particularly GH, and should be started at birth to avoid hormone deficiencies and intellectual delay. | Treatment is based on replacement of deficient hormones, particularly GH, and should be started at birth to avoid hormone deficiencies and intellectual delay. | ||
== '''Prognosis''' == | == '''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. | 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. | ||
[[Category:Congenital disorders of endocrine system]] | [[Category:Congenital disorders of endocrine system]] | ||
[[Category:Congenital disorders of nervous system]] | [[Category:Congenital disorders of nervous system]] | ||
Latest revision as of 05:47, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Pituitary stalk interruption syndrome | |
|---|---|
| |
| Synonyms | PSIS |
| Pronounce | |
| Specialty | Endocrinology |
| Symptoms | Growth hormone deficiency, hypogonadotropic hypogonadism, hypothyroidism, adrenal insufficiency |
| Complications | Delayed puberty, infertility, osteoporosis |
| Onset | Congenital |
| Duration | Lifelong |
| Types | |
| Causes | Congenital disorder |
| Risks | |
| Diagnosis | MRI, hormonal assay |
| Differential diagnosis | Septo-optic dysplasia, Kallmann syndrome |
| Prevention | |
| Treatment | Hormone replacement therapy |
| Medication | Growth hormone, thyroid hormone, corticosteroids, sex hormones |
| Prognosis | Variable, depending on severity and treatment |
| Frequency | Rare |
| Deaths | |
Other Names: Ectopic neurohypophysis; PSIS
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.
Epidemiology[edit]
The prevalence of PSIS is unknown, however, some 1,000 cases have been reported either with or without the full triad.
Cause[edit]
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.
Signs and symptoms[edit]
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. Some people can also have vision problems (septooptic dysplasia) and Fanconi anemia. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 100% of people have these symptoms
- Ectopic posterior pituitary
80%-99% of people have these symptoms
- Failure to thrive(Faltering weight)
- Short stature(Decreased body height)
30%-79% of people have these symptoms
- Delayed puberty(Delayed pubertal development)
- Hypoglycemia(Low blood sugar)
- Hypoplasia of penis(Underdeveloped penis)
- Hypothyroidism(Underactive thyroid)
5%-29% of people have these symptoms
- Adrenal hypoplasia(Small adrenal glands)
- Cryptorchidism(Undescended testes)
- Death in infancy(Infantile death)
- Diabetes insipidus
- Global developmental delay
- Intellectual disability(Mental deficiency)
- Primary amenorrhea
- Seizure
- Septo-optic dysplasia
Diagnosis[edit]
The diagnosis is confirmed through MRI showing the characteristic findings.
Treatment[edit]
Treatment is based on replacement of deficient hormones, particularly GH, and should be started at birth to avoid hormone deficiencies and intellectual delay.
Prognosis[edit]
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.
NIH genetic and rare disease info[edit]
Pituitary stalk interruption syndrome is a rare disease.
| Rare and genetic diseases | ||||||
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Rare diseases - Pituitary stalk interruption syndrome
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