Endocrine Abstracts

Hormonal management of androgen, secondary thyroid hormone and vitamin D insufficiency of patients with Klinefelter syndrome (KS) during transition needs some expertise. While vitamin D supplementation should be smoothly applied, thyroxin should be reserved for primary (auto-immune) thyroid disease. Although the androgen deficiency is generally mild and slowly progressive, timely initiation of testosterone replacement therapy (TRT) has been advocated to ensure a normal adult s...

Introduction: Recently, a microduplication of 15q26.3 not including IGF1R was reported in subjects of two families with overgrowth and variable intellectual disability (Leffler M. et al., Eur J Med Gen, 2016).Aim: To report the clinical findings in a third case with overgrowth related to a small microduplication of 15q26.3 not including the IGF1R region.Methods: Comparative genome hybridization was done using an A...

Introduction: Diagnosis and treatment of neurosarcoidosis (NS) can be challenging. We describe an unsual presentation of an isolated NS in a 21 year old adult, initially presenting with central diabetes insipidus (DI) associated with a stalk thickening at the age of 14.Case description: A 21 year old patient was first seen at the department of endocrinology after a 9 years follow-up for panhypopituitarism. He presented at the age of 14 years at the pedia...

Background and aims: Little is known about the long-term psychosocial effect of tallness and its treatment in male adolescents.1 Therefore, psychosocial outcome, including adult coping with tall stature were investigated in young adult men, who had consulted for tall stature during adolescence.Methods: All adult men (age >18 years) who had been referred for tall stature or rapid growth during adolescence (ages 11 to 16 years) between 2010 ...