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Idiopathic hypothalamus-pituitary dysfunction: review of five cases
S Cianfarani1, R M Nicholl, S Medbach
1Department of Endocrinology, St. Bartholomew's Hospital, London, UK.
Insights
Early signs of evolving hypothalamic-pituitary dysfunction in children include weight gain, impaired thirst, and hyperprolactinaemia. These symptoms, alongside diabetes insipidus, signal progressive pituitary deficiencies requiring monitoring and hormone replacement.
Area of Science:
- Pediatric Endocrinology
- Neuroendocrinology
- Pediatric Neurology
Background:
- Hypothalamic-pituitary dysfunction can manifest subtly in children.
- Early identification is crucial for timely intervention and management.
Observation:
- Five children (4 girls, aged 4-14) presented with varied symptoms including polyuria, polydipsia, weight gain, hyperphagia, and growth failure.
- Over 1-5 years, they developed diabetes insipidus, osmoreceptor dysfunction, hyperprolactinaemia, and deficiencies in growth hormone, ACTH, and TSH.
- Structural hypothalamic lesions were identified in 2 patients via MRI/CT scans after 1.5 and 3.5 years.
Findings:
- Weight gain, impaired thirst, and hyperprolactinaemia were identified as early indicators of evolving hypothalamic-pituitary dysfunction.
- These early signs were often accompanied by diabetes insipidus and progressive anterior pituitary deficiencies.
- Normal neuroimaging in some cases highlights the importance of clinical presentation in diagnosis.
Implications:
- Clinical and neuroradiological surveillance is vital for children with symptoms suggesting hypothalamic lesions.
- Hormone replacement therapy is essential for managing progressive pituitary deficiencies.
- Understanding early clinical signs aids in the diagnosis and management of pediatric neuroendocrine disorders.
Abstract:
We describe 5 children, 4 girls, aged 4-14 years with evolving hypothalamic-pituitary dysfunction. They had presenting features, isolated or combined, of polyuria and polydipsia (n = 3), weight gain and hyperphagia (n = 3), and growth failure (n = 1). During periods of 1-5 years per child, the following abnormalities developed: diabetes insipidus (n = 5), osmoreceptor dysfunction (hypernatraemia with absent thirst) (n = 3), hyperprolactinaemia (n = 3), growth hormone (GH) deficiency (n = 4, of whom 3 had normal linear growth), ACTH deficiency (n = 2), TSH deficiency (n = 2) and precocious puberty (n = 1, female). In 2 patients, high-resolution CT scans and MRI showed structural lesions of the hypothalamus 1.5 and 3.5 years after presentation. These were inaccessible and not biopsied. Scans in the remainder were normal. In conclusion, weight gain, impaired thirst, and hyperprolactinaemia were early features of evolving hypothalamic-pituitary dysfunction, and occurred with diabetes insipidus, accompanied by progressive anterior pituitary deficiencies. Pituitary hormone replacement with clinical and neuroradiological surveillance is important in any child with symptoms suggestive of an evolving hypothalamic lesion.