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...

ea0014p347 | (1) | ECE2007

High prevalence of ER22/23EK polymorphism of the glucocorticoid receptor gene in patients with Graves’ orbitopathy

Boyle Belema , Korányi Katalin , Bertalan Rita , Rácz Károly , Balázs Csaba

Objective: To investigate whether three polymorphisms of the glucocorticoid receptor gene known to influence the sensitivity to glucocorticoids could be implicated in the pathomechanism of Graves’ orbitopathy.Methods: Allelic frequencies of the ER22/23EK, Bcl l and N363S polymorphisms of the glucocorticoid receptor gene were investigated in 99 patients with Graves’ orbitopathy (mean age, 47.8±13.4 years) and in 175 healthy individuals (mea...

ea0014p484 | (1) | ECE2007

Severe hyperandrogenism during the entire course of pregnancy does not cause virilization of a female infant born

Bertalan Rita , Halász Zita , Csabay László , Rigó János , Németh Sándor , Blázovics Anna , Toke Judit , Boyle Belema , Rácz Károly

Objevtives: Maternal hyperandrogenism occurs rarely during pregnancy as the consequense of maternal ovarian or adrenal disorders, or placental aromatase deficiency.Case: A 33-year-old pregnant women was referred because of high serum testosterone (240 ng/dl; normal, 20–60 ng/dl) measured at the 7th week of pregnancy. At presentation she had symptoms of moderate hyperandrogenism, which slightly increased until delivery. Abdominal and pelvic ultrasoun...

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...