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 ...

Introduction: CHH is a genetic syndrome that combines reproductive and brain abnormalities. The brain phenotype has been incompletely characterized. We aimed to study neuroradiological and genetic features in this first Belgian series of patients with CHH.Methods: A series of 56 adult patients (48 males, 8 females) presenting with CHH was investigated for a panel of 16 genes related to hypogonadotropic hypogonadism by next generation sequencing on a MiSe...