Searchable abstracts of presentations at key conferences in endocrinology

ea0049s10.3 | The Challenges of Male Fertility | ECE2017

Pubertal induction and hormone replacement in young males

Pitteloud Nelly

Congenital gonadotropin-releasing hormone deficiency is a rare disorder characterized by incomplete or absent puberty and infertility. This condition is both clinically and genetically heterogeneous and presents with a broad spectrum of phenotypes ranging from mild to severe. This presentation will provide a review of hypogonadotropic hypogonadism, including the clinical presentation of HH, a rational approach to evaluating HH patients, and an update on treatment options. In p...

ea0020s3.4 | Genetics in neuroendocrinology | ECE2009

Reversible hypogonadotropic hypogonadism

Pitteloud Nelly

Puberty is a complex biologic process inducing sexual development and fertility. Puberty is initiated by the secretion of pulsatile gonadotropin-releasing hormone (GnRH) secretion from the hypothalamus. Severe anomalies in GnRH secretion or action may lead to idiopathic hypogonadotropic hypogonadism (IHH), a disorder where patients failed to go through puberty. While IHH was previously thought to require lifelong treatment, we hypothesized that activation of the hypothalamic&#...

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...

ea0081oc12.3 | Oral Communications 12: Reproductive and Developmental Endocrinology | ECE2022

Defective Notch1/Jag1 signaling impacts GnRH development and contributes to hypogonadotropic hypogonadism

Ludovica Cotellessa , Federica Marelli , Duminuco Paolo , Lucia Bartoloni , Michela Adamo , Pitteloud Nelly , Persani Luca , Bonomi Marco , Giacobini Paolo , Valeria Vezzoli

The precise development of the Gonadotropin Releasing Hormone (GnRH) neurons is essential for the proper function of the hypothalamic-pituitary-gonadal axis, as GnRH is the master regulator of reproductive functions in vertebrates. Mutations in genes involved in the development of GnRH neurons are associated with Congenital Hypogonadotropic Hypogonadism (CHH), a heterogeneous genetic disorder characterized by hypogonadism, lack of puberty onset, and infertility, which is named...

ea0056p121 | Endocrine tumours and neoplasia | ECE2018

A case of benign insulinoma successfully treated with endoscopic ultrasound guided radiofrequency ablation

Gueneau de Mussy Pierre , Lamine Faiza , Godat Sebastien , Marino Laura , Di Giorgi Sara , Gonzalez Rodriguez Elena , Desmartines Nicolas , Pitteloud Nelly

Background: Insulinoma is a rare pancreatic neuroendocrine tumor but a life-threatening condition if untreated. Surgical resection is the standard of care with a high cure rate for benign insulinomas but complications can occur in nearly 30% of cases. New non-surgical mini-invasive ablative therapies can be considered in patients with benign insulinoma who are either unfit for surgery or refuse it, although current data are scarce and long-term outcomes are unknown.<p clas...

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...

ea0070aep788 | Reproductive and Developmental Endocrinology | ECE2020

Clinical and genetic overlap between congenital hypogonadotropic hypogonadism and cornelia de lange syndrome

Xu Cheng , Messina Andrea , Acierno James , Niederlander Nicolas , Santoni Federico , Papadakis Georgios , Pignatelli Duarte , Avbelj Stefanija Magdalena , Keefe Kimberly , Balasubramanian Ravikumar , Crowley William , Pitteloud Nelly

Background: Congenital hypogonadotropic hypogonadism (CHH), a clinically and genetic heterogenous sydrome, is caused by > 40 known loci whose mutations share the ability to cause defects in the ontogeny of the GnRH neuron network leading to absent/incomplete puberty and infertility. Cornelia de Lange Syndrome (CdLS) is similarly heterogenous disorder (distinctive facies, psychomotor delay, growth retardation and upper limb malformation) caused by mutations in 7 different g...

ea0027oc1.8 | Oral Communications 1 | BSPED2011

Mutations in PROKR2 but not PROK2 are associated with congenital hypopituitarism and septo-optic dysplasia

McCabe Mark , Gregory Louise , Gaston-Massuet Carles , Sbai Oualid , Rondard Philippe , Pfeifer Marija , Hulse Tony , Buchanan Charles , Pitteloud Nelly , Martinez-Barbera Juan-Pedro , Dattani Mehul

Introduction: Loss-of-function mutations in PROK2 and PROKR2 in humans have been associated with Kallmann syndrome (KS), characterised by the combination of hypogonadotrophic hypogonadism with anosmia, suggesting that both are critical for GnRH neuronal development.Objective: KS has overlapping phenotypes and genotypes through FGF8 and FGFR1 with congenital hypopituitarism including septo-optic dysplasia (SOD) and thus we aime...

ea0081rc12.4 | Rapid Communications 12: Reproductive and Developmental Endocrinology | ECE2022

Unraveling the link between metabolism and reproduction in obese men

Papadakis Georgios , Lucie Favre , Zouaghi Yassine , Vionnet Nathalie , Niederlander Nicolas , Adamo Michela , Acierno James , Santoni Federico , Berdous Dassine , Spoerl Alexia , Paccou Emmanuelle , Aleman Yasser , Salamin Olivier , Hagmann Patrick , Messina Andrea , Pitteloud Nelly

Introduction: Obesity is a worldwide pandemic, and in men can often be associated with hypogonadotropic hypogonadism (HH), a finding consistent with a clear link between sex steroids and reproduction. In this study, we aimed to characterize the phenotypic spectrum of male obesity, focusing on the metabolic and reproductive effect of weight loss after bariatric surgery, as well as to explore the role of central inflammation.Methods: We conducted an observ...