Endocrine Abstracts

Case report: We describe a 28 years old male patient born in IRAK, beeing referred to us because of suspicion of congenital hypogonadism. The patient was 1.86 m tall and 1.97 spam arm and he was no anosmic. He had a 2.5 cm micropenis, and a bilateral reduced testicular volume (3.6 and 3.9 ml). LH 1.7 U/l (2–10), FSH 3.1 U/l (1–8), testosterone 0.7 mmol/l, estradiol <12 ng/l, inhibine B 54 ng/l (105–439) Pituitary MRI was normal.Genetic...

Introduction: Neurokinin B (NKB) is a neurotransmitter, regulating GnRH. NKB activates its receptor TACR3. Recessive mutations of TACR3 are associated with a phenotype of normosmic hypogonadism.Case report: A 17 years old man born in Turkey, present with pubertal delay. He is treated 3 years with testosterone and he is reevaluated without treatment. He is 1.79 m and 1.85 arm span, testicular volume: 3 and 4 ml. He has no olfactory troubles. Testosterone ...