Delayed Diagnosis, Difficult Decisions: Novel Gene Deletion Causing X-Linked Hypophosphatemia in a Middle-Aged Man with Achondroplastic Features and Tertiary Hyperparathyroidism

Table 1

Laboratory values over the years.

	July 2014 (initial consultation with endocrinology)	July 2019 (re-referral to endocrinology)	July 2020 (immediately prior to parathyroidectomy)	Normal range (units)
Serum calcium	2.33	2.67	2.67	2.09–2.46 mmol/L
Serum phosphate	0.39	0.96	1.40	0.94–1.50 mmol/L
Serum iPTH	41.1	117	101	0.9–6.2 pmol/L
Serum creatinine	91	148	180	54–101 umol/L
Serum alkaline phosphatase	140	179	184	9–99 U/L
Serum 1,25-dihydroxyvitamin D	43		30	18–64 pg/ml
Serum 25-hydroxyvitamin D	33.4	11.0	17.5	>30 ng/ml
Serum fibroblast growth factor 23 (FGF23)			371	≤180 RU/ml
24-hour urinary calcium	0.99	0.65		0.82–6.74 mmol/day