Case report: A 10-year-old Italian girl presented with a painless, hard swelling in left fronto-orbital region noted two years earlier. She had no headache or other symptoms; ophthalmologic evaluation revealed no signs of intracranial hypertension; the visual field showed a reduced level of sensitivity in the upper sector of the left eye.Her previous medical history was not relevant except for a mild head injury reported two years earlier. The girl was a second born after an uneventful pregnancy with normal delivery from unrelated parents without significant illnesses. Birth weight was 3700 g, psychomotor development had been regular and no previous hospital admissions were reported. At clinical examination, the child was in good general condition. Neurologic examination was unremarkable.Her Tanner stage was B1PH3. She did not show café-au-lait spots.The weight was 52.5 kg (+1.68 SDS), height 161.5 cm (+3.2 SDS) and BMI 20.1 kg/m2 (+0.64 SDS).A brain CT and MRI showed an fibro-osseous lesion of the cranial base, extending to the orbit and left frontal region with obliteration of the left frontal and sphenoid sinuses and partial obliteration of the ethmoid sinus. The pituitary appeared enlarged with a convex upper margin and two small areas of altered signal of the parenchyma with delayed gadolinium uptake (3 and 5 mm in diameter).The remaining radiograph of the skeleton showed no lesions.Endocrine examination showed high IGF-1 (908 ng/ml,n.v.123-427) and high basal GH levels (36 ng/ml,n.v.<8.05) that resulted not suppressed during oral glucose toleration test (nadir GH 29.1 ng/ml). A hyperprolactinemia was also revealed (451 ng/ml, n.v.4.8-23.3); levels of IGFBP3, TSH,FT4, ACTH, cortisol, blood glucose and electrolytes resulted normal.FSH, LH and 17-beta-estradiol resulted in pre-pubertal ranges. Pelvic ultrasound showed a pre-pubertal appearance of uterus and ovaries without ovarian cysts. A neurosurgical treatment was programmed; the genetic investigation for McCune-Albright syndrome (MAS) is ongoing.
Discussion: MAS, a complex disorder due to postzygotic somatic activating mutations in GNAS1 gene, is characterized by fibrous dysplasia (98% of patients in a large cohort) (Collins et al,2012), café-au-lait spots (66%) and hyperfunctioning endocrinopathies.The latter are mainly represented by precocious puberty (50%), more rarely by hyperthyroidism (28%), renal phosphate wasting (43%), growth hormone (GH) and/or prolactin hypersecretion (21%) and hypercortisolism (4%) (Yao et al,2017).GH excess represents a serious complication and it is almost always associated with skull base fibrous dysplasia (Salenave et al,2014). Cases of patients treated conservatively are reported in literature (Classen et al,2012).
19 - 21 Sep 2019
European Society for Paediatric Endocrinology