A 12-year 8-month-old girl visited our hospital due to short stature. Her height was 130.7 cm (−3.6SD), and her weight was 42 kg (−0.24 SD). She had cubitus valgus and breast budding (Tanner stage II) without a webbed neck, congenital heart anomaly, exophthalmos, or goiter. Laboratory results in serum were as follows: Ca 10.3 mg/dL, LH11.7 mIU/mL, FSH37.7 mIU/mL, estrogen 18.6 pg/mL, IGF-1 304 ng/mL, and bone age 12 years and 0 months. All other laboratory findings including thyroid function testing were normal. Peripheral lymphocyte analysis using the G-band technique revealed the following karyotype: 46,X, del(X)(p11.1). When the patient was 13 years old, she was treated with growth hormone(GH) for 3 years and 9 months. Her height reached 146.6 cm (−2.2 SD). Menarche began spontaneously at the age of 14 years and 2 months, but her cycle was irregular and gradually disappeared. At the age of 17 years and 1 month, she was given Kauffman therapy. At the same time, she showed slight bilateral exophthalmos and a moderately sized goiter. The diagnosis of Graves disease was established by serum findings as follows: TSH < 0.005 μIU/mL, fT4 3.49 ng/mL, T3 3.00 ng/mL, and TSAb 624%. Upon treatment with methimazole, her laboratory findings fell within normal limits. At the age of 20 years, her laboratory data in serum were as follows: Ca 10.6 mg/dL, P 3.3 mg/dL, intact parathyroid hormone (iPTH) 105 pg/mL; she had no symptoms of hyperparathyroidism. We followed her condition closely and noted an increase in serum Ca and iPTH to 11.1 mg/dL and 103 pg/mL, respectively. Swelling of a tumor involving the upper left parathyroid gland was identified by cervical ultrasonography and scintigraphy. The tumor (399 mg in weight) was resected and pathological analysis revealed an adenoma. She was diagnosed with primary hyperparathyroidism (PHP). After parathyroidectomy, her serum Ca and iPTH levels normalized. There have been no reports of Turner syndrome with Graves disease and PHP. In our case, Graves disease developed after treatment with growth hormone, and associated PHP was subsequently confirmed. PHP can sometimes present as part of multiple endocrine neoplasia type 1 (MEN1). Our case is not concomitant with MEN1 presentation. Moreover, there was no history of endocrine disorders associated with MEN1 in our patients family.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology