hrp0095p1-176 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Diagnostic and management practices of girls presenting with polycystic ovary syndrome (PCOS)-like symptoms to a tertiary paediatric endocrine clinic.

Solanas Martín Blanca , R. Howard Sasha , R. Hughes Claire , L. Storr Helen , H. Willemsen Ruben

Background: Polycystic ovary syndrome (PCOS) continues to be a diagnostic challenge in adolescent girls. Symptoms like oligomenorrhea and acne, and polycystic ovarian morphology on ultrasound can be normal variants in adolescents. In addition to diagnostic difficulties, there is lack of randomized controlled trials for PCOS treatments specific to adolescents. Current guidelines for diagnosis and management of PCOS in adolescents have large variations and rely ...

hrp0098p1-190 | Pituitary, Neuroendocrinology and Puberty 3 | ESPE2024

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

A Aslam Aisha , Lim Sharon , H Willemsen Ruben , Koysombat Kanyada , Young Megan , Singh Dhillo Waljit , Abbara Ali , R Howard Sasha , F Gevers Evelien

Introduction: Pathogenic MC4R gene variants result in hyperphagia and early onset obesity, but puberty is not usually affected. A 16-year-old male with repaired Tetralogy of Fallot, anosmia, autism, and anxiety, was referred with delayed puberty. Height was -1.31 SDS, BMI 30.7 kg/m2. He had high-arched palate, normal skin and hair colour, mild hypertelorism, Tanner stage A2P1G1, 5ml testes.Results: Gn...