Searchable abstracts of presentations at key conferences in endocrinology

ea0095p154 | Thyroid 2 | BSPED2023

Aetiology and the mode of presentation of congenital hypothyroidism – a 10 year single centre experience in a tertiary care centre in Sri Lanka

Siriwardhane Dinendra , Atapattu Navoda

Introduction: Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency which is present at birth. Thyroid hormones are crucial for early neurodevelopment. Untreated severe CH results in major neurological deficits. Therefore, if treatment is initiated early, these deficiencies can be prevented. Newborn screening for CH was first initiated in Sri Lanka in September 2010.Methods: A retrospective cohort study...

ea0095p49 | Gonadal, DSD and Reproduction 1 | BSPED2023

Mayer–Rokitansky–Küster-Hauser (MRKH) syndrome – two cases presenting to a large UK Paediatric Endocrinology Centre

Siriwardhane Dinendra , Perchard Reena , Murray Philip

The Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is characterized by congenital absence or underdevelopment of the uterus and upper two thirds of the vagina in females with karyotype XX, alongside normal external genitalia. The prevalence is 1 in 4000 to 5000. It can be divided into two major categories. Type 1 occurs in isolation whilst type 2 involves other organ systems, particularly the renal, vertebral, auditory and cardiac systems. Whilst sporadic i...