Pituitary stalk interruption syndrome (PSIS): a rare cause of congenital hypopituitarism
Abstract Background Pituitary stalk interruption syndrome (PSIS) is a rare congenital malformation of the pituitary stalk that leads to hypopituitarism, presenting with a variety of endocrine dysfunctions, including delayed puberty, short stature, and hypothyroidism. Magnetic resonance imaging (MRI)...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2025-08-01
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| Series: | The Egyptian Journal of Radiology and Nuclear Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43055-025-01550-w |
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| Summary: | Abstract Background Pituitary stalk interruption syndrome (PSIS) is a rare congenital malformation of the pituitary stalk that leads to hypopituitarism, presenting with a variety of endocrine dysfunctions, including delayed puberty, short stature, and hypothyroidism. Magnetic resonance imaging (MRI) typically reveals a thin or absent pituitary stalk, hypoplasia of the anterior pituitary, and ectopic posterior pituitary. This case aims to highlight the importance of early recognition and multidisciplinary management to improve long-term outcomes in patients with PSIS. Case presentation We present a 21-year-old male with delayed puberty and multiple endocrine abnormalities, including hypothyroidism, hypogonadism, and cortisol insufficiency. The patient exhibited physical features such as a depressed nasal bridge, macroglossia, and a short, wide neck. MRI revealed a hypoplastic anterior pituitary, absent pituitary stalk, and an ectopic posterior pituitary. Laboratory findings included elevated TSH, prolactin, and low levels of free T4, testosterone, and cortisol. Treatment with levothyroxine, prednisolone, and chorionic gonadotropin was initiated. After 3 months, laboratory values improved, although hormone levels remained abnormal. Conclusions This case highlights the importance of early detection and appropriate treatment for PSIS. MRI is a crucial diagnostic tool for patients presenting with hypopituitarism. A multidisciplinary approach to managing PSIS, including lifelong monitoring and tailored interventions, is essential for optimizing patient outcomes and addressing both endocrine and developmental concerns. |
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| ISSN: | 2090-4762 |