Endocrine Abstracts

Introduction: The Ehlers-Danlos syndrome, classic type is a connective tissue disorder, characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility, due to COL5A1 or COL5A2 genes mutations. Multiple endocrine neoplasia, type 2A (MEN2A) is a syndrome defined by medullary carcinoma, phaeochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis, because of mutations in RET proto-oncogene. COL5A and RET genes mutations are linked to conditions affecting the human integumentary system.

Case report: A 18-year-old Caucasian female was consulted by endocrinologist in February 2014. Her psychomotor development was normal. Since childhood she was very flexible. At age 12 she had hip luxation and underwent internal fixation with screws. Deformities of pelvis and lumbar spine, knee valgus deformity occurred. At 15 years juvenile epiphysiolisis was diagnosed. She underwent left knee osteosynthesis followed by peroneal and tibial nerves damage. In 2012 small thyroid nodule, subclinical hypothyreosis was diagnosed; 25 mg of levothyroxine were prescribed. In 2014 medullary carcinoma (size 0.4 mm) was diagnosed. Thyroidectomy and neck lymphnodectomy was performed. She received radiotherapy course. 2.5 weeks after surgery calcitonin level was 1557.2 ng/l (0.5–7.8). She has been taking levothyroxine 125 mg/day. Her mother has MEN2A and underwent surgery for parathyroid adenoma. Father has multinodular goitre. On examination: height 184 cm, long face, long palms and fingers, joints’ hypermobility, scoliosis, widened atrophic scars, atrophic striae at the back, hyperelasticity of face and elbows skin, piezogenic papules. Abdominal ultrasound and CT: no pathological changes. Left shoulder CT: sclerotic proximal growth line of left humerus. Body CT: multiple lymphnodes, lungs, pelvis bones, and vertebrae metastases. Bone scan: active head, humerus, pelvis focuses. Genetics’. Ehlers-Danlos syndrome; RET gene mutation at 13th egzone (Y791F mutation), causing MEN2A syndrome.

Conclusions: If complicated growth and atypical phenotype is obvious, genetics’ consultation is desirable. Coexistent thyroid pathology might be inherited too.