# Lost Connection: A Case Report of Interrupted Pituitary Stalk Syndrome

**Authors:** Rana Bilal Idrees, Mariam Malik, Faisal Ehsan Cheema, Maham Khalid, Farwa Malik, Muhammad Hamid Chaudhary

PMC · DOI: 10.7759/cureus.60232 · Cureus · 2024-05-13

## TL;DR

A 12-year-old boy with stunted growth was diagnosed with pituitary stalk interruption syndrome based on MRI findings and hormone levels.

## Contribution

This paper presents a clinical case report confirming pituitary stalk interruption syndrome through imaging and laboratory findings.

## Key findings

- The patient exhibited reduced height and delayed bone age, consistent with growth hormone deficiency.
- MRI confirmed the classical triad of pituitary stalk interruption syndrome.
- Low levels of growth hormone and thyrotropin were observed in laboratory tests.

## Abstract

Pituitary stalk interruption syndrome is a triad of thin (<1 mm) or complete absence of the pituitary stalk with either an aplastic or ectopic posterior lobe of the pituitary gland and a hypoplastic or absent anterior lobe of the pituitary. Patients present with growth retardation, short height, seizures, intellectual disability, and absence of sexual maturation at the expected time. Here, we presented a case of a 12-year-old male with stunted growth. Upon examination, there was reduced height, more than 3 standard deviations below the average for his chronological age. Laboratory results showed reduced levels of growth hormone and thyrotropin. Dual-energy X-ray absorptiometry revealed osteoporosis, while an X-ray of the wrist for bone age corresponded to seven years. MRI imaging confirmed the classical triad of findings for pituitary stalk interruption syndrome. Consequently, the patient was referred back to the endocrinology clinic for further management.

## Linked entities

- **Diseases:** pituitary stalk interruption syndrome (MONDO:0019828), osteoporosis (MONDO:0005298)

## Full-text entities

- **Genes:** GH1 (growth hormone 1) [NCBI Gene 2688] {aka GH, GH-N, GHB5, GHN, IGHD1A, IGHD1B}
- **Diseases:** osteoporosis (MESH:D010024), intellectual disability (MESH:D008607), growth retardation (MESH:D006130), hypoplastic (MESH:D000741), absent anterior lobe of the pituitary (MESH:D010900), absence of sexual maturation (MESH:D003924), short height (MESH:C000719188), Interrupted Pituitary Stalk Syndrome (OMIM:217095), seizures (MESH:D012640)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

5 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11168961/full.md

## References

13 references — full list in the complete paper: https://tomesphere.com/paper/PMC11168961/full.md

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Source: https://tomesphere.com/paper/PMC11168961