Searchable abstracts of presentations at key conferences in endocrinology

ea0073oc4.3 | Oral Communications 4: Reproductive and Developmental Endocrinology | ECE2021

Gender difference in genetic and diagnosis of congenital hypogonadotropic hypogonadism (CHH) in a large cohort from an Endo-ERN referral center

Federici Silvia , Cangiano Biagio , Goggi Giovanni , Persani Luca , Bonomi Marco

Congenital hypogonadotropic hypogonadism (CHH) is a rare condition characterized by impairment of pubertal development, that can be associated with hypo/anosmia (Kallmann Syndrome, KS) or normosmia (nCHH). A genetic basis can be identified in nearly 50% of cases, with increasingly common detection of oligogenicity. CHH has a strong male predominance (MtoF ratio 5–3:1), although sex ratio for CHH in families with autosomal inheritance has been proven to be close to equal....

ea0081p689 | Pituitary and Neuroendocrinology | ECE2022

Peculiar presentation of a TSH-secreting pituitary adenoma: a possible new multiple endocrine syndrome?

Goggi Giovanni , Campi Irene , Delle Donne Elisa , Moro Mirella , Guizzardi Fabiana , Bonomi Marco , Persani Luca

Introduction: TSH-secreting pituitary adenomas (TSHomas) are a rare cause of central hyperthyroidism, accounting for less than 1% of all pituitary adenomas, with a prevalence in the general population of 1-2 cases per million.Case Presentation: A 45-year-old female patient presented in 2009 with hypertension and tachycardia: blood tests revealed an inappropriately normal TSH with high fT3/fT4 levels and primary hyperaldosteronism. She declined further in...

ea0070aep807 | Reproductive and Developmental Endocrinology | ECE2020

Genetic background and previous androgenization are associated with reproductive and non-reproductive outcomes of Gonadotropin-mediated pubertal induction in Congenital Hypogonadotropic Hypogonadism (CHH)

Cangiano Biagio , Goggi Giovanni , Federici Silvia , Guizzardi Fabiana , Vezzoli Valeria , Duminuco Paolo , Persani Luca , Bonomi Marco

CHH is a rare disease with a relevant genetic background, and is characterized by a failure to enter (complete forms) or to complete (partial forms) pubertal development. It requires a treatment to allow the completion of puberty, and in male this goal can be achieved either using testosterone replacement therapy or administering gonadotropins (Gn); the latter allows both testicular development and the endogenous testosterone production. There are few studies evaluating the th...

ea0090p736 | Reproductive and Developmental Endocrinology | ECE2023

The Impact of Covid-19 Lockdown on Pubertal Onset in A Second Level Center

Goggi Giovanni , Moro Mirella , Chila Alessandro , Fatti Letizia , Cangiano Biagio , Federici SIlvia , Galazzi Elena , Carbone Erika , Soranna Davide , Vezzoli Valeria , Persani Luca , Bonomi Marco

Background: As of December 2019, the COVID-19 pandemic has spread rapidly, therefore Governments from all over the world promoted a strategy of social confinement through a general lockdown in order to contain it. During the months following its introduction, many studies reported a significant increase in the incidence of idiopathic central precocious puberty (CPP) throughout several countries, especially in girls.Purpose: The aim of our study was to co...

ea0070aep787 | Reproductive and Developmental Endocrinology | ECE2020

Clinical and genetic characterization of two cases of central hypogonadism in Klinefelter syndrome

Indirli Rita , Cangiano Biagio , Profka Eriselda , Castellano Elena , Goggi Giovanni , Mantovani Giovanna , Arosio Maura , Persani Luca , Borretta Giorgio , Ferrante Emanuele , Bonomi Marco

Introduction: Klinefelter syndrome (KS) is generally characterized by late adolescence/young adulthood onset of primary hypergonadotropic hypogonadism. Fourteen cases have been previously reported on apparently unexplained isolated hypogonadotropic hypogonadism (IHH) in KS. Gonadotropins defect was variably associated with anosmia or other pituitary hormones deficiencies, but no cause could be clearly identified to explain the central defect. We describe the clinical and genet...