Searchable abstracts of presentations at key conferences in endocrinology

ea0029s44.3 | Genome wide studies in reproduction | ICEECE2012

Genetics of (In)fertility

Laven J. , Stolk L. , Uitterllinden A.

Since menarche is the landmark for the beginning of fertility and menopause marks the end of a women’s reproductive lifespan genetics of fertility as well as infertility will be discussed taking recent GWAS data on both menarche and menopause into account.Recently, 30 new loci for age at menarche were identified in a meta-analysis of 32 genome-wide association studies (GWAS) in women of European descent. In addition to two known loci the new loci in...

ea0029s62.2 | Early Development and Treatment of PCOS | ICEECE2012

Early development and pubertal prevention of polycystic ovary syndrome

de Zegher F. , Ibanez L.

PCOS (defined by NIH, Rotterdam or AES criteria) is traditionally viewed as an ovarian disorder that appears in adolescence and may lead to metabolic complications in adulthood. Emerging evidence, however, indicates that PCOS is primarily a disorder of adipose-tissue hyperexpansion that may originate in early life, develop across childhood and puberty, and advance into end-stage disease (including ovulatory dysfunction and ovarian androgen excess) by adolescence. Prepubertal m...

ea0029p315 | Cardiovascular Endocrinology and Lipid Metabolism | ICEECE2012

Effects of long-term treatment of hypogonadal men with testosterone undecanoate on blood pressure, fasting glucose, HbA1c and C-reactive protein

Saad F. , Haider A. , Gooren L.

Introduction: Hypogonadism is associated with metabolic syndrome and all its individual components. This study analysed effects of normalization of serum testosterone in mainly elderly, hypogonadal men.Methods: Prospective registry study of 252 men (mean age 60.6±8.0 years), with testosterone levels between ≤3.5 ng/ml. They received parenteral testosterone undecanoate 1000 mg at day 1, week 6 and every 12 weeks thereafter for up to 66 months.<...

ea0029p447 | Clinical case reports - Thyroid/Others | ICEECE2012

Combination of recombinant TSH (rhTSH) and lithium overcomes amiodarone-induced low radioiodine uptake in a thyrotoxic female

Laplano N. , Mercado-Asis L.

Background: Recombinant human TSH (rhTSH) promotes 131I uptake in selected populations. Lithium increases RAI retention by reducing intra-thyroidal release. In this report, combination of rhTSH and lithium overcame low RAIU in Graves’ disease.Objective: We aim to present the case of a Graves’ disease given combination of rhTSH and lithium to overcome amiodarone-induced low 131I uptake.Methods and res...

ea0029p616 | Diabetes | ICEECE2012

A novel case of diabetes mellitus and aniridia in a Caucasian family

Chen D. , Jenkins A. , Campbell L.

Introduction: We describe a novel case of familial congenital aniridia in a Caucasian woman with associated insulin requiring diabetes mellitus. This human combination has been described in Asian families in association with a heterozygous Paired Box 6 (PAX6) mutation (1) with subsequent evidence supporting that the mutation in this transcription factor causes decreased Proconvertase 1/3 function in the pancreas and a high proinsulin to insulin ratio (2). Our case does not hav...

ea0029p1021 | Male Reproduction | ICEECE2012

Side effect profile of long-term treatment of hypogonadal men with testosterone undecanoate

Saad F. , Haider A. , Gooren L.

Introduction: Testosterone therapy for hypogonadal men has been used for decades. However, there are still concerns regarding the safety of this treatment, particularly in elderly men.Methods: Prospective registry study of 252 men (mean age 60.6±8.0 years), with testosterone levels between ≤3.5 ng/ml. They received parenteral testosterone undecanoate 1000 mg at day 1, week 6 and every 12 weeks thereafter for up to 66 months.<p class="abst...

ea0029p1228 | Obesity | ICEECE2012

Reduction of body weight and waist circumference after long-term treatment of hypogonadal men with testosterone undecanoate

Saad F. , Haider A. , Gooren L.

Introduction: Obesity is associated with reduced testosterone, and low testosterone induces weight gain. This study analysed the effects of normalization of serum testosterone in mainly elderly, hypogonadal men.Methods: Prospective registry study of 252 men (mean age 60.6±8.0 years), with testosterone levels between ≤ 3.5 ng/ml. They received parenteral testosterone undecanoate 1000 mg at day 1, week 6 and every 12 weeks thereafter for up to 6...

ea0026s24.2 | Management of phaechromocytoma | ECE2011

Imaging of pheochromocytoma and paragangliomas

Timmers H J L M

The standard technique for the functional imaging of pheochromocytoma and paraganglioma (PPGL) is [123I]-metaiodobenzylguanidine single photon emission computed tomography (MIBG SPECT). However, metastases are more accurately detected by 2-[18F]-Fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET). In a large prospective study of 216 patients evaluated at the NIH for benign or malignant PPGL, we investigated the sensitivity and specificity of FDG PET ...

ea0026p145 | Male reproduction | ECE2011

Criptorchidism, varicocele, azoospermia and Leydig cell tumor in a couple of identical twins with a unique de novo balanced reciprocal translocation.

Vetri M , Stancampiano A , Licciardello L

Chromosomal translocations or inversions, may cause spermatogenic failure. We present a case of a 35-years-old couple of identical twins: GD and GS. Both had criptorchidism and bilateral varicocele and underwent medical treatment first, and orchipexy and varicocelectomy subsequently at 7 years and 28 years respectively. GD at 31 years had left orchiectomy because of Leydig cell tumor. They were referred to our clinic for azoospermia and fatherhood desire. The patients were a n...

ea0026p627 | Clinical case reports | ECE2011

Clinical, hormonal and cytogenetic evaluation of 46,XX male

Vetri M , Stancampiano A , Licciardello L

The XX male syndrome, also called ‘de la Chapelle syndrome’, has been renamed as ‘46, XX testicular disorder of sex development’ (DSD) in 2006. It occurs in about 1/20 000 male newborns. We describe a 57-years-old male who referred to our andrological outpatient clinic because of erectile dysfunction. He was a smoker and suffered from 15 years of type 2 diabetes mellitus; he was also carrying a euthyroid multinodular goiter. The physical examination include...