Searchable abstracts of presentations at key conferences in endocrinology

ea0059cc4 | Featured Clinical Cases | SFEBES2018

A novel case of primary hypogonadism in female associated with Loeys-Dietz syndrome type 5

Lim Chung Thong , Bertalan Rita , Davies Ceri , McElreavey Kenneth , Korbonits Marta

A 31-year-old female was referred to Endocrinology clinic for review of her hypergonadotrophic-hypogonadism. She had cleft palate operation at age 3. At age 15y lack of pubertal signs prompted investigations showing XX genotype, FSH:120 IU/L, LH:32 IU/L and low E2. She was started on cyclo-progynova (elsewhere). She has tall stature, span 2.5 cm longer than height, bifid uvula, arachnodactyly with positive ‘wrist sign’, mild scoliosis, pectus excavatum and reduced mu...