Searchable abstracts of presentations at key conferences in endocrinology

ea0063p1071 | Pituitary and Neuroendocrinology 3 | ECE2019

A novel mutation in CHD 7 gene: hypogonadotropic hypogonadism without charge syndrome

Danda Vijay Sheker Reddy , Konda Chaithanya , Verupula Madhavi , Hyderabad Apsia Ruhi , Paidipally Srinivas Rao

Congenital isolated hypogonadotropic hypogonadism (CHH), is a condition characterized by a defect in development, migration and action of GnRH neurons. Numerous genes are involved in CHH. It can present with anosmia, hyposmia or normosmia. Two cases presented to our department with late onset delayed puberty. First case was a 29 year old with absence of secondary sexual characters along with micropenis and anosmia. His younger brother, 22 year old had similar complain...

ea0025p222 | Pituitary | SFEBES2011

Has you appearance changed over the last few years? Oh I’m really ugly now!

Eligar Vinay Somashekar , Dacruz Thomas , Thind Munveer , Rao Srinivas , Williams Meurig , Rice Samuel

Forty two year Mrs SJ, community support worker with a background history of hypothyroidism was referred by her GP with excessive tiredness and weight gain. She had been attending her surgery for few months with somatic symptoms and her GP had noticed significant change in facial characteristics and large hands. She complained of increase in her feet size from a size 6 to a 9. No disturbance of vision was reported.She was noted to have hyperglycaemia and...