Pituitary stalk interruption syndrome (PSIS) presenting in a Jordanian male patient with short stature and delayed puberty: a case report

Abstract Background Pituitary stalk interruption syndrome is a rare congenital pituitary anatomical defect manifested with wide and various clinical presentations. Short stature and delayed puberty are present in most cases and may be combined with extra pituitary malformations. Magnetic resonance i...

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Main Authors: Loai Q. Mabreh, Aseel M. Al Rabab’ah
Format: Article
Language:English
Published: SpringerOpen 2023-03-01
Series:The Egyptian Journal of Radiology and Nuclear Medicine
Subjects:
Online Access:https://doi.org/10.1186/s43055-023-01001-4
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author Loai Q. Mabreh
Aseel M. Al Rabab’ah
author_facet Loai Q. Mabreh
Aseel M. Al Rabab’ah
author_sort Loai Q. Mabreh
collection DOAJ
description Abstract Background Pituitary stalk interruption syndrome is a rare congenital pituitary anatomical defect manifested with wide and various clinical presentations. Short stature and delayed puberty are present in most cases and may be combined with extra pituitary malformations. Magnetic resonance imaging is considered the key factor for reaching the definite diagnosis as it reveals the different radiological presentations of this syndrome. Case presentation A 17-year-old male patient from Jordan was presented to the radiology department for pituitary MRI. The patient presents with multiple pituitary hormonal deficiency, short stature, and under-developed secondary sexual characteristics. The bone age of the patient was significantly less than the chronological age. MRI pituitary gland showed hypoplasia of the anterior pituitary, absence of the pituitary stalk and ectopic posterior pituitary gland located posterior to the optic chiasm. These findings were consistent with pituitary stalk interruption syndrome. Conclusions Considering uncommon incidence of pituitary stalk interruption syndrome, magnetic resonance imaging of the pituitary should be considered while examining a patient with pituitary deficiency for prompt diagnosis and treatment. Hormone replacement medication is the primary treatment for pituitary stalk interruption syndrome and should be started as soon as feasible. Thus, early diagnosis and monitoring of individuals are crucial.
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spelling doaj.art-e54ce59fc521458bac729915be71a3872023-03-22T10:45:41ZengSpringerOpenThe Egyptian Journal of Radiology and Nuclear Medicine2090-47622023-03-015411410.1186/s43055-023-01001-4Pituitary stalk interruption syndrome (PSIS) presenting in a Jordanian male patient with short stature and delayed puberty: a case reportLoai Q. Mabreh0Aseel M. Al Rabab’ah1Radiology Department, Princess Basma Teaching HospitalDepartment of Internal Medicine, Faculty of Family Medicine, Jordan University HospitalAbstract Background Pituitary stalk interruption syndrome is a rare congenital pituitary anatomical defect manifested with wide and various clinical presentations. Short stature and delayed puberty are present in most cases and may be combined with extra pituitary malformations. Magnetic resonance imaging is considered the key factor for reaching the definite diagnosis as it reveals the different radiological presentations of this syndrome. Case presentation A 17-year-old male patient from Jordan was presented to the radiology department for pituitary MRI. The patient presents with multiple pituitary hormonal deficiency, short stature, and under-developed secondary sexual characteristics. The bone age of the patient was significantly less than the chronological age. MRI pituitary gland showed hypoplasia of the anterior pituitary, absence of the pituitary stalk and ectopic posterior pituitary gland located posterior to the optic chiasm. These findings were consistent with pituitary stalk interruption syndrome. Conclusions Considering uncommon incidence of pituitary stalk interruption syndrome, magnetic resonance imaging of the pituitary should be considered while examining a patient with pituitary deficiency for prompt diagnosis and treatment. Hormone replacement medication is the primary treatment for pituitary stalk interruption syndrome and should be started as soon as feasible. Thus, early diagnosis and monitoring of individuals are crucial.https://doi.org/10.1186/s43055-023-01001-4Pituitary stalk interruption syndrome (PSIS)MRIHypopituitarismShort statureCase report
spellingShingle Loai Q. Mabreh
Aseel M. Al Rabab’ah
Pituitary stalk interruption syndrome (PSIS) presenting in a Jordanian male patient with short stature and delayed puberty: a case report
The Egyptian Journal of Radiology and Nuclear Medicine
Pituitary stalk interruption syndrome (PSIS)
MRI
Hypopituitarism
Short stature
Case report
title Pituitary stalk interruption syndrome (PSIS) presenting in a Jordanian male patient with short stature and delayed puberty: a case report
title_full Pituitary stalk interruption syndrome (PSIS) presenting in a Jordanian male patient with short stature and delayed puberty: a case report
title_fullStr Pituitary stalk interruption syndrome (PSIS) presenting in a Jordanian male patient with short stature and delayed puberty: a case report
title_full_unstemmed Pituitary stalk interruption syndrome (PSIS) presenting in a Jordanian male patient with short stature and delayed puberty: a case report
title_short Pituitary stalk interruption syndrome (PSIS) presenting in a Jordanian male patient with short stature and delayed puberty: a case report
title_sort pituitary stalk interruption syndrome psis presenting in a jordanian male patient with short stature and delayed puberty a case report
topic Pituitary stalk interruption syndrome (PSIS)
MRI
Hypopituitarism
Short stature
Case report
url https://doi.org/10.1186/s43055-023-01001-4
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AT aseelmalrababah pituitarystalkinterruptionsyndromepsispresentinginajordanianmalepatientwithshortstatureanddelayedpubertyacasereport