A case of Costello with parathyroid adenoma and hyperprolactinemia.
A 23-year-old female with Costello syndrome is presented. She had mental retardation, macrocephalia, "coarse" facial features, deep palmar and plantar creases, hyperkeratosis in palms and soles, hyperpigmentation, curly hair, and cutis laxa, which are among the diagnostic features of the syndrome, and a history of hyperprolactinemia since the age of 16. Her present complaint was weakness and widespread bone-pain. In routine biochemistry, she had an elevated calcium level of 11.1 (8.6-10.2) mg/dl and her DEXA evaluation was consistent with osteoporosis (vertebra and femur T score <-2.5). High PTH levels, 103 (8-78) pg/ml, suggested presence of a parathyroid adenoma. Tc-MIBI scintigraphy revealed two focuses of pathological uptake, one located inferior to left lobe of thyroid and the other in the superior left lobe of thyroid gland. After parathyroid adenomectomy, her serum calcium and PTH levels returned to normal values. This is the first case of parathyroid adenoma and hyperprolactinemia in the literature, reported in a patient with Costello syndrome.
Cakir
Mehtap
M
Endocrinology and Metabolism, Akdeniz University School of Medicine, Antalya, Turkey. cakirmehtap@yahoo.com
Arici
Cumhur
C
Tacoy
Sukran
S
Karayalcin
Umit
U
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000236:Adenoma / Q000473:pathology*; D000328:Adult; D005260:Female; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D006966:Hyperprolactinemia / Q000473:pathology*; D008607:Intellectual Disability / Q000473:pathology; D007621:Karyotyping; D010282:Parathyroid Neoplasms / Q000473:pathology*; D013577:Syndrome