# Rare Case of Growth Hormone Insensitivity Syndrome Correlated With Hypothyroidism: A Case Report

**Authors:** Sri Sita Naga Sai Priya K, Jayant D Vagha, Sham Lohiya, Keta Vagha, SreeHarsha Damam, Rahul Khandelwal, Chaitanya Kumar Javvaji, Siddhartha Murhekar

PMC · DOI: 10.7759/cureus.62575 · Cureus · 2024-06-17

## TL;DR

This case report describes an 11-year-old girl with a rare condition where her body doesn't respond to growth hormone and also has an underactive thyroid.

## Contribution

The novelty lies in highlighting the rare coexistence of growth hormone insensitivity and hypothyroidism in a pediatric patient.

## Key findings

- The patient had elevated TSH and low T3 and T4 levels, indicating hypothyroidism.
- Elevated GH and low IGF-1 levels confirmed the diagnosis of growth hormone insensitivity syndrome.
- Thyroid hormone replacement and recombinant GH therapy were used to address both conditions.

## Abstract

Growth hormone insensitivity syndrome (GHIS) is a rare genetic disorder characterized by short stature due to the body's inability to effectively utilize growth hormone (GH). This case report describes a patient with concurrent hypothyroidism and GHIS. This patient is an 11-year-old female presented with short stature; general examination suggested a prominent forehead and a depressed nasal bridge. Laboratory evaluations revealed elevated thyroid-stimulating hormone (TSH) levels alongside low levels of triiodothyronine (T3) and thyroxine (T4), indicating hypothyroidism. Additionally, elevated GH levels and significantly reduced insulin-like growth factor 1 (IGF-1) levels confirmed the diagnosis of GHIS. The patient was managed with thyroid hormone replacement therapy and recombinant GH. This dual therapeutic approach will lead to improvements in both thyroid function and growth parameters. This case underscores the importance of recognizing and addressing coexisting endocrine disorders in patients with GHIS to optimize their growth and developmental outcomes. Early diagnosis and a comprehensive treatment strategy are essential for managing such complex cases effectively.

## Linked entities

- **Diseases:** growth hormone insensitivity syndrome (MONDO:0015892), hypothyroidism (MONDO:0005420)

## Full-text entities

- **Genes:** GH1 (growth hormone 1) [NCBI Gene 2688] {aka GH, GH-N, GHB5, GHN, IGHD1A, IGHD1B}, IGF1 (insulin like growth factor 1) [NCBI Gene 3479] {aka IGF, IGF-I, IGFI, MGF}
- **Diseases:** depressed nasal bridge (MESH:D054084), Hypothyroidism (MESH:D007037), genetic disorder (MESH:D030342), endocrine disorders (MESH:D004700), forehead (MESH:D006259), GHIS (MESH:D046150), short stature (MESH:D006130)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## References

10 references — full list in the complete paper: https://tomesphere.com/paper/PMC11255533/full.md

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Source: https://tomesphere.com/paper/PMC11255533