Searchable abstracts of presentations at key conferences in endocrinology

ea0073aep3 | Adrenal and Cardiovascular Endocrinology | ECE2021

Effective metyrapon treatment of a case of neonatal cushing syndrome of unknown origin

Gacs Zsofia , Borbála Tobisch , Ágnes Sallai , Viktória Kemény , Butz Henriett , Varga Edit

Neonatal Cushing syndrome (CS) is a rather rare disease. The majority of these few cases are of ACTH dependent origin or caused by a unilateral adrenal tumour (carcinoma or adenoma), however ACTH independent bilateral hyperplasias stand for only a few percent of all cases. The management of neonatal CS depends on the underlying cause – if found in time - of the disease. In the past the survival rate of children with CS was low, new and renewed medical attempts have improv...

ea0014p156 | (1) | ECE2007

MEN2B – Two simultaneous cases of a rare syndrome

Sallai Ágnes , Hosszú Éva , Gergics Péter , Tulassay Zsolt , Rácz Károly , Fekete György

A 17-year-old boy was referred to our Department. In his medical history Crohn’s disease had been supposed because of abdominal pain and distention. He had previously undergone minor surgery as having large tongue with neuromas and hypertrophic gums. Due to his marfanoid appearance, arachnodactyly, massive eyebrows and lips together with his medical history, multiple endocrine neoplasia type 2B (MEN2B) was suspected, which is a very uncommon hereditary disease. It consist...

ea0014p585 | (1) | ECE2007

Genetic analysis of PROP1 gene in patients with childhood-onset combined pituitary hormone deficiency (CPHD)

Halász Zita , Toke Judit , Patócs Attila , Bertalan Rita , Tömböl Zsófia , Sallai Ágnes , Hosszú Éva , Muzsnai Ágota , Kovács László , Sólyom János , Fekete György , Rácz Károly

Introduction: Combined pituitary hormone deficiency (CPHD) may be associated with mutations of genes coding for pituitary transcription factors, of which the PROP1 and Pit1, gene mutations have been most extensively studied. However, there are controversial data about the prevalence of these gene mutations in non-acquired childhood-onset CPHD patients.Objectives: To examine the prevalence and spectrum of PROP1 and Pit1 gene mutations in CPHD patients a m...