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Background <p>Pituitary neuroendocrine tumours (PitNETs) of the mammosomatotroph type are exceedingly rare in childhood, particularly in children under 10&#xa0;years old. Existing high-quality, evidence-based data primarily derive from large adult cohorts, while paediatric evidence remains extremely limited.</p> <p>Case presentation</p> <p>A 7-year-old boy presented with headaches, transient amaurosis, and accelerated linear growth (+3.0 SDS), clinically consistent with pituitary gigantism. MRI revealed a 1.9 × 1.7 × 2.8&#xa0;cm predominantly cystic sellar–suprasellar mass compressing the optic chiasm, radiologically indistinguishable from craniopharyngioma. Preoperative biochemistry showed GH &gt; 40&#xa0;ng/mL, IGF-1 = 479&#xa0;ng/mL (reference range: 40–255&#xa0;ng/mL), and PRL = 129&#xa0;ng/mL (reference range: 2.1–17.7&#xa0;ng/mL). Transcranial gross-total resection normalized GH (5.15&#xa0;ng/mL), PRL (9.56&#xa0;ng/mL), and IGF-1 (257&#xa0;ng/mL) without adjuvant medical therapy. Histology confirmed a paediatric case of mammosomatotroph PitNETs. Targeted next-generation sequencing detected a pathogenic <i>SMARCB1</i> deletion but no <i>AIP</i>, <i>GNAS</i>, or <i>USP8</i> variants. The patient remains clinically and biochemically well 8 months postoperatively. </p> Conclusions <p>This 7-year-old boy represents one of the youngest recorded cases of a mammosomatotroph pituitary neuroendocrine tumour. The atypical presentation, dominated by mass-effect symptoms and pituitary gigantism, highlights the necessity of early hormonal and genetic screening when evaluating complex paediatric sellar masses.</p>

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Mammosomatotroph pituitary neuroendocrine tumour in a 7-year-old boy: case report

  • 期刊论文

  • 发表日期：

    2026年3月17日

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  • Wei Lin,
  • Yadan Qiu,
  • Zhuang Ma,
  • Hongyao Yuan,
  • Rui Yang,
  • Xinke Xu

摘要

Background

Pituitary neuroendocrine tumours (PitNETs) of the mammosomatotroph type are exceedingly rare in childhood, particularly in children under 10 years old. Existing high-quality, evidence-based data primarily derive from large adult cohorts, while paediatric evidence remains extremely limited.

Case presentation

A 7-year-old boy presented with headaches, transient amaurosis, and accelerated linear growth (+3.0 SDS), clinically consistent with pituitary gigantism. MRI revealed a 1.9 × 1.7 × 2.8 cm predominantly cystic sellar–suprasellar mass compressing the optic chiasm, radiologically indistinguishable from craniopharyngioma. Preoperative biochemistry showed GH > 40 ng/mL, IGF-1 = 479 ng/mL (reference range: 40–255 ng/mL), and PRL = 129 ng/mL (reference range: 2.1–17.7 ng/mL). Transcranial gross-total resection normalized GH (5.15 ng/mL), PRL (9.56 ng/mL), and IGF-1 (257 ng/mL) without adjuvant medical therapy. Histology confirmed a paediatric case of mammosomatotroph PitNETs. Targeted next-generation sequencing detected a pathogenic SMARCB1 deletion but no AIP, GNAS, or USP8 variants. The patient remains clinically and biochemically well 8 months postoperatively.

Conclusions

This 7-year-old boy represents one of the youngest recorded cases of a mammosomatotroph pituitary neuroendocrine tumour. The atypical presentation, dominated by mass-effect symptoms and pituitary gigantism, highlights the necessity of early hormonal and genetic screening when evaluating complex paediatric sellar masses.