Endocrine Abstracts

Introduction: Differential diagnosis between secondary hyperparathyroidism (SHPTH) and possible pseudohypoparathyroidism can be challenging in case of insufficient diagnostic tools and co-existing medical conditions. We report a diagnostic road to final diagnosis.

Case report: A 48-years old white male-to-female transgender patient was admitted to our clinic for evaluation due to mental deterioration, general fatigue, slowly progressing bilateral upper arm and epigastric area cramps over last 2 years, pain in the lumbal area and right hip region leading to reduced mobility. No remarkable history, except crural DVT during estrogen therapy, received from 2004–2015 without any specialist’s supervision, not any therapy used in last year. Possible previous delusion episodes since head trauma during teenage years were reported by patient’s brother. The patient was severely obese.

Biochemical tests revealed low calcium (1.74 mM/l [2.2–2.55]) and potassium (3.12 mM/l [3.3–5.5]), normal phosphate, creatinine and glucose level. Preliminary suspected Cushing’s and Fahr’s syndromes were excluded after seeing suppressed cortisol axis and elevated PTH (624.2 pg/ml [12–68]). No substantial changes in other tests. No electrolyte loss with 24 h urine was seen. Thyroid and gonadic axis were unchanged. Head CT scan revealead no basal ganglia calcinosis. No data of paratadenoma. In spite of high normal phosphate level and not characteristic phenotype, our first suspected diagnosis was pseudohypoparathyroidism. Additional tests showed low 25(OH)-vitamin-D (<7 ng/ml [30–50]) and elevated alkaline phosphatase (320 U/l [44–147]). Pelvic MRI showed left femoral periosteal cyst formation and right hip joint synovitis. Though we were restricted in many diagnostic tools due to multiple factors, no further data strongly supported evidence of pseudohypoparathyroidism.

Based on these findings we suggest the final diagnosis of secondary hyperparathyroidism with severe osteomalacia. Treatment was continued with calcitriol, cholecalciferol, oral calcium. Some improvement of symptoms was seen over the hospitalization course.

Conclusion: We would like to stress the importance of multi-focused investigation for bone-metabolic problems.