Coarse facial features

Coarse facial features or coarse facies describes a constellation of facial features that are present in many inborn errors of metabolism.

A 12-year-old girl with a rare plurihormonal pituitary macroadenoma secreting prolactin (PRL), growth hormone (GH), Thyroid stimulating hormone (TSH), and alpha subunit (α-SU).

The patient experienced recurrent headaches and progressing loss of vision in one eye. During the examination, abnormalities such as tall stature, coarse facial features, enlarged feet and hands, tachycardia, hand tremor, hyperhidrosis, galactorrhea, and goiter were observed. Head magnetic resonance imaging (MRI) revealed a solid tumor in the anterior and middle cranial fossa, measuring 80 × 50 × 55 mm. A stereotactic biopsy revealed plurihormonal Pit-1 positive pituitary neuroendocrine tumor secreting PRL, GH, and TSH. A pituitary hyperfunction with PRL, GH, TSH, and α-SU excess was diagnosed. The patient was successfully treated pharmacologically with dopamine agonists and somatostatin analogue, and a decrease of tumor volume (30%) was achieved.

When neurosurgery is not possible, long-term pharmacological treatment of Giant plurihormonal pituitary neuroendocrine tumor can be a safe and relatively effective alternative ¹⁾.