Endocrine Abstracts

Introduction: Pathogenic MC4R variants result in hyperphagia and early onset obesity but puberty is not usually affected. We describe an MC4R variant in a patient with Kallmann syndrome and obesity.Case: A 16 year old male with repaired Tetralogy of Fallot, anosmia, autism and anxiety, was referred with obesity and delayed puberty. Height was -1.31 SDS, BMI 30.7 kg/m2. He had a high arched palate, normal skin, normal hai...

Introduction: Kallmann syndrome (KS) is a rare genetic disorder typically due to defective migration of olfactory-axons and GnRH-neurons. KS results in congenital hypogonadotrophic hypogonadism (CHH) typically associated with absent (anosmia) or reduced (microsmia) sense of smell. Unilateral hypoplastic/absent olfactory bulbs on MRI are reported, although disturbance in smell is usually bilateral. Here, we present an unusual case of KS with unilateral anosmia....