Searchable abstracts of presentations at key conferences in endocrinology

ea0049n1.2 | (1) | ECE2017

Clinical practice overlap and seamless care – links between hypogonadism, the metabolic syndrome and type 2 diabetes

Dwyer Andrew

There is a bi-directional relationship between hypogonadism and type 2 diabetes and the metabolic syndrome (T2DM/MetS). Studies show that up to 50% of men with MetS/T2DM have testosterone deficiency. Moreover, both hypogonadism and MetS confer increased health risk for morbidity and mortality. Men with MetS are twice as likely to develop cardiovascular disease and have a fivefold higher risk for developing T2DM. Notably, the inverse relationship between testosterone and MetS i...

ea0044n2.3 | Nurse session 2: Male fertility | SFEBES2016

Secondary Infertility

Dwyer Andrew

Primary forms of infertility result from gonadal causes and have limited treatment options. In contrast, secondary infertility is of neuroendocrine origin and is amenable to several therapeutic approaches. Reproductive capacity depends on critical developmental windows of hormonal activity during neonatal life and during puberty. Thus, a developmental perspective can provide insight for predicting fertility potential as well as for guiding the selection of treatment to maximiz...

ea0037en2.4 | Professional development, poster presentations and networking | ECE2015

Research topic: identifying the needs of patients with Congenital Hypogonadotrophic Hypogonadism, implications for nursing practice

Dwyer Andrew

Rare disease patients are frequently seen in endocrine clinic. These patients are not only faced with serious health challenges resulting from their chronic conditions, but often struggle with significant psychosocial impact. Understanding unmet patient needs and activating patients to become engaged participants in managing their condition are essential aspects for improving long-term outcomes for rare/chronic disease patients. Using the example of congenital hypogonadotropic...

ea0041oc13.5 | Pituitary Clinical | ECE2016

Unmet health and information needs of women with hypogonadotropic hypogonadism

Dwyer Andrew , Quinton Richard , Morin Diane , Pitteloud Nelly

Background: Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder (1:4′000-10′000) characterized by absent puberty and infertility. There is striking gender discordance (3–4 males for each female case) thus women with CHH are the “rarest of the rare”. Unlike many orphan conditions, treatments are available and hormonal therapies are effective for inducing puberty and fertility. However, the presumable availability of treatment does not ne...

ea0035n4 | (1) | ECE2014

Adherence to treatment for chronic hypogonadism: the role of illness perceptions and depressive symptoms

Dwyer Andrew , Tiemensma Jitske , Quinton Richard , Morin Diane , Pitteloud Nelly

Background: For chronic diseases, adherence to treatment remains a major clinical challenge. For men with long-term hypogonadism, there is scant data regarding adherence to treatment. Congenital hypogonadotropic hypogonadism (CHH) is a rare, genetic, endocrine disorder characterized by incomplete/absent puberty and infertility. Little is known about adherence in this patient population or the psychosocial implications of living with this rare disorder. Therefore, we aimed to e...

ea0090p456 | Reproductive and Developmental Endocrinology | ECE2023

Nurse-Led Care for Transgender and Gender Diverse Individuals: A Cross-Sectional Study of International Context and Practice

Greenspan Debra , White Bradley P. , Bobrowich Eli G. , Carruthers Paul , Ducar Dallas , Ernstsson Camilla , Barrett Sophia , Dwyer Andrew

Introduction: Gender minorities, including transgender and gender diverse (TGD) individuals face health disparities and significant barriers in accessing healthcare. Lack of access to providers knowledgeable in TGD health needs is the single greatest barrier to care. Existing literature on TGD care has almost exclusively focused on physicians and there is scant literature on the role of nurses. We aimed to describe exemplars of nurse-led TGD care internationally to better unde...

ea0041ep735 | Neuroendocrinology | ECE2016

Phenotype-genotype analysis in patients with GnRH deficiency in a single center

Djurdjevic Sandra Pekic , Xu Cheng , Dwyer Andrew , Cassatella Daniele , Doknic Mirjana , Miljic Dragana , Stojanovic Marko , Petakov Milan , Pitteloud Nelly , Popovic Vera

Objective: Congenital hypogonadotropic hypogonadism (CHH) results from isolated GnRH deficiency and may present with normal sense of smell (nCHH), anosmia (Kallmann syndrome, KS) or in syndromic forms. Genetic defects are identified in approximately half of CHH cases and oligogenicity is noted in almost 10%. Further, spontaneous reversal of is seen in 15% of patients.Methods: We analyzed the clinical characteristics of 37 Serbian CHH probands (34 sporadi...

ea0049gp153 | Neuroendocrinology & Growth Hormones | ECE2017

Evaluating CHARGE syndrome in CHD7-positive CHH patients: clinical implications

Xu Cheng , Cassatella Daniele , Sloot Almer van der , Hauschild Michael , Quinton Richard , De Geyter Christian , Fluck Christa , Feller Katrin , Bartholdi Deborah , Nemeth Attila , Halperin Irene , Djurdjevic Sandra Pekic , Papadakis Georgios , Dwyer Andrew , Marino Laura , Pignatelli Duarte , Huang Carol , Niederlander Nicolas , Acierno James , Pitteloud Nelly

Context: Congenital hypogonadotropic hypogonadism (CHH) and CHARGE syndrome are clinically and genetically overlapping syndromes, with mutations in the CHD7 gene presenting in both disorders. However systematic evaluation of CHARGE features in CHD7-positive CHH patients is seldom performed.Objective: This study aims to systematically evaluate CHARGE features in CHD7-positive patients and explore the phenotype-genotype correlation.<p...

ea0035oc9.1 | Reproduction | ECE2014

High frequency of FGFR1 mutations in patients with congenital hypogonadotropic hypogonadism and split hand/foot malformation

Villanueva Carine , Jacobson-Dickman Elka , Xu Cheng , Dwyer Andrew , Sykiotis Gerasimos , Tommiska Johanna , Hu Youli , Leger Juliane , Carel Jean-Claude , Gerard Marion , Polak Michel , Tiosano Dov , Drouin-Garraud Valerie , Raivio Taneli , Bouloux Pierre , Sidis Yisrael , Mohammadi Moosa , Manouvrier Sylvie , De Roux Nicolas , Pitteloud Nelly

Background: Congenital hypogonadotropic hypogonadism (CHH) is characterized by absent puberty and infertility due to a lack of GnRH secretion/action. In addition, patients exhibit variable non-reproductive phenotypes such as anosmia, cleft palate, synkinesia, and others. As many as 10% of CHH patients harbor mutations in FGFR1; this group is enriched for skeletal anomalies. We report here a novel CHH-associated skeletal phenotype, split hand/foot malformation (SHFM), ...