Abstract:
A 33-year-old woman presented for the first time at
the age of 9 years with recurrent seizures and was subsequently
treated for epilepsy for 2 years. At 11 years of
age, it was noted that the patient had hypocalcemia
with an increased parathyroid hormone (PTH) measured
with use of an intact PTH assay. Serum calcium
was 5.73 mg/dL [1.43 mmol/L; reference interval (RI)
8.82–10.42 mg/dL (2.2–2.6 mmol/L)]; serum phosphate
was 10.42 mg/dL [3.36 mmol/L; RI 1.86–4.34
mg/dL (0.6 –1.4 mmol/L)]; and PTH was 319.68 pg/mL
[33.9 pmol/L; RI 8.49–68.84 pg/mL (0.9 –7.3 mmol/
L)]. Vitamin D (Total 25-OH; 25-OH D2 and D3)
concentrations, magnesium concentrations, liver and renal
function tests were all normal. No other endocrine
abnormalities such as thyroid or gonadotropin resistance
were detected. The patient also was of short stature and
was overweight. However, she became overweight after
the age of 13 years (body mass index at 13 years was 22.8
kg/m2), and the short stature was not significant, as she
was at the lower end of the RI for height at 1.55 m. There
was no cognitive impairment. Positive Chvostek sign was
observed but not Trousseau sign.
