Searchable abstracts of presentations at key conferences in endocrinology

ea0041ep606 | Endocrine tumours and neoplasia | ECE2016

Novel mutations p.V220E and c.30G>T in menin gene are associated with hereditary predisposition to multiple endocrine neoplasia type 1

Ziemnicka Katarzyna , Budny Bartlomiej , Gut Pawel , Hernik Aleksandra , Leitgeber-Dominiczak Olena , Siudzinski Marcin , Gryczynska Maria , Janicki Adam , Ruchala Marek

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant condition characterized by varying combinations of endocrine tumors and commonly accompanying hyperplasia within the parathyroid gland, anterior pituitary and gastrointestinal tract. Heterozygous germline mutation of the tumor suppressor gene MEN1 is the most common cause of the disease. Molecular genetic testing of menin gene, in which mutation is known to cause MEN1 syndrome, detects pathogenic...

ea0037gp.30.05 | Endocrine tumours and neoplasia – General | ECE2015

Targeted destruction of FSHR-positive cells by lytic peptide Phor21 conjugated with FSHβ subunit in vitro

Chrusciel Marcin , Stelmaszewska Joanna , Ponikwicka-Tyszko Donata , Doroszko Milena , Wolczynski Slawomir , Huhtaniemi Ilpo , Ziecik Adam , Rahman Nafis

FSH receptor (FSHR) expression has been shown in gonadal tumours, as well as in endothelial tumour vessel cells of various cancers. FSHR, due to its transmembrane localization could be a good candidate for receptor-mediated targeted cancer therapy. In recent years, a number of membrane disrupting lytic peptides have been used for receptor-based cancer therapy. In the present study, we characterised the specificity and cytotoxicity of a lytic peptide Phor21 conjugated to three ...

ea0035oc10.5 | Endocrine Tumours | ECE2014

Molecular mechanisms underlying the unexpected promoting effects of mifepristone on murine testicular Leydig cell tumorigenesis

Chrusciel Marcin , Ponikwicka-Tyszko Donata , Stelmaszewska Joanna , Li Xiangdong , Huhtaniemi Ilpo , Toppari Jorma , Wolczynski Slawomir , Rahman Nafis

Progesterone (P4) treatment has been shown to have a clear modulating effect on murine Leydig tumor cell (mLTC-1) function, including downregulation of luteinizing hormone receptor. We hypothesized that P4 would stimulate, whereas an antiprogestine mifepristone (MF) block tumor progression in vivo in a transgenic (TG) murine Leydig cell tumor model (inhibin-α promoter-driven SV40 T-antigen (inhα/Tag)) and act similarly on cell proliferation in vitro...

ea0035p518 | Endocrine tumours and neoplasia | ECE2014

Molecular mechanisms of unexpected promoting effects of progesterone and mifepristone on granulosa cell tumorigenesis

Ponikwicka-Tyszko Donata , Chrusciel Marcin , Stelmaszewska Joanna , Bernaczyk Piotr , Li Xiangdong , Huhtaniemi Ilpo , Wolczynski Slawomir , Rahman Nafis A

Antiprogestine mifepristone (MF) has been shown to inhibit ovarian epithelial cancer (OEC) cell growth in vitro and in vivo. Recent clinical trials with MF for human OEC were unsuccessful, for unknown reasons. Progesterone (P4) is believed to have preventive measures towards breast, endometrial or hOEC cancers. Hereby we analyzed the effects of P4 and MF on ovarian granulosa cell tumorigenesis (GCT) in vitro and in vivo...

ea0056gp49 | Adrenal medulla and NETs | ECE2018

Targeted destruction of FSHR-positive cancer cells by a lytic Phor21-FSHb conjugate

Chrusciel Marcin , Stelmaszewska Joanna , Doroszko Milena , Ponikwicka-Tyszko Donata , Toppari Jorma , Wolczynski Slawomir , Ziecik Adam , Huhtaniemi Ilpo , Rahman Nafis

Expression of the follicle-stimulating hormone receptor (FSHR) has been shown in gonads, gonadal tumors, and in endothelial tumor vessel cells of various cancers. We investigated the specificity and cytotoxicity of a fusion lytic peptide Phor21, conjugated to different FSHβ-chain fragments to ablate FSHR expressing cancer cells in vitro and in vivo. Cytotoxicity of 12 different Phor21-FSHβ conjugates was tested in HEK-293 cells, stably transfected w...

ea0035p91 | Bone and Osteoporosis | ECE2014

Usefulness of serum sclerostin as a diagnostic marker of osteoporosis in a cohort of spanish postmenopausal women

Luque-Fernandez Ines , Garcia-Martin Antonia , Reyes-Garcia Rebeca , Morales-Santana Sonia , Garcia-Fontana Beatriz , Munoz-Torres Manuel

Introduction: Sclerostin, produced by osteocytes, is a potent inhibitor of Wnt signaling and bone formation. The usefulness of its determination in clinical practice is not well established.Objectives: The aims of this study were to evaluate serum sclerostin levels in a cohort of Spanish posmenopausal women, and to analyze its relationship with bone metabolism.Methods: We measured serum sclerostin in 97 posmenopausal women using EL...

ea0029p1670 | Thyroid (non-cancer) | ICEECE2012

Iodine supply and prevalence of thyroid autoimmunity and autoimmune thyroiditis in children and adolescents between 1 and 16 years old in our city

Garcia-Garcia E. , Vazquez-Lopez M. , Garcia-Fuentes E. , Rodriguez-Sanchez F. , Munoz-Vico J. , Bonillo A. , Soriguer F.

Introduction: Thyroid autoimmunity is related to iodine supply. Iodine nutrition has improved in our country, but the prevalence of autoimmune thyroiditis in our children is unknown.Objectives: To determine the status of iodine nutrition in children and adolescents in our city. To calculate local prevalence of thyroid autoimmunity and autoimmune thyroiditis in pediatric ages.Design: Cross-sectional epidemiological study.<p clas...

ea0081ep817 | Pituitary and Neuroendocrinology | ECE2022

Pituitary Stalk Interruption Syndrome in a 22-year old Filipino Male : A case report

Kei Bariuad-Garcia Irene , Paz Cecille Dela

Background: Pituitary Stalk Interruption Syndrome (PSIS) is a rare congenital anomaly affecting the pituitary gland with characteristic MRI findings of small or absent anterior pituitary gland, misplaced or absent posterior pituitary gland and very thin or interrupted pituitary stalk (1). Patients with PSIS often presents with signs and symptoms of either isolated growth hormone deficiency or multiple anterior pituitary hormone deficiency and symptoms differ according to age a...

ea0090p807 | Late-Breaking | ECE2023

Retinal quantitative traits as prognostic factors for diabetic cardiomyopathy in people with type 2 diabetes: A scoping review

Sandoval Garcia Emmanuel , Stephani Hellwege Rubi

Introduction: Heart failure (HF) morbidity and mortality are increasing at an alarming rate in people with type 2 diabetes (T2D). Myocardial dysfunction may develop without ischemic heart disease (IHD), hypertension, or valvular pathologies, and which is defined as diabetic cardiomyopathy (DCM). Although the pathophysiology of DCM is unclear, DCM is initially characterised by myocardial fibrosis, dysfunctional remodelling, and associated diastolic dysfunction, later by systoli...

ea0090ep589 | Endocrine-related Cancer | ECE2023

Alpelisib-induced severe hyperglycemia: A case report. Are we discontinuing the drug too soon?

Garcia Fernandez Javier , Perera Izquierdo Marcos

Background: Alpelisib is an α-selective PI3K inhibitor indicated for the treatment of postmenopausal women and men with hormone receptor-positive (HR+), human epidermal growth receptor 2-negative (HER2–), PIK3CA-mutated locally advanced or metastatic breast cancer following disease progression or after endocrine therapy. Hyperglycemia is the most common adverse event (up to 60%) associated with its use. It occurs more frequently and lasts longer in patients with pred...