Searchable abstracts of presentations at key conferences in endocrinology

ea0095oc3.1 | Oral Communications 3 | BSPED2023

The first description of an MC4R variant in a patient with Kallmann syndrome and obesity

A Aslam Aisha , Lim Sharon , Willemsen Ruben , R Howard Sasha , Gevers Evelien

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...

ea0094p267 | Reproductive Endocrinology | SFEBES2023

Kallmann syndrome with unilateral anosmia

Tsoutsouki Jovanna , N Comninos Alexander , Phylactou Maria , Chia Eng Pei , Patel Bijal , Modi Manish , Young Megan , Papadopoulou Deborah , R Howard Sasha , S Dhillo Waljit , Abbara Ali

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....