Searchable abstracts of presentations at key conferences in endocrinology

ea0032mte13 | (1) | ECE2013

Hypogonadotropic hypogonadism

Raivio Taneli

Patients with congenital hypogonadotropic hypogonadism (cHH; also referred to as idiopathic HH) have inadequately low gonadotropin and sex steroid levels for age without an underlying organic or functional cause. The combination of cHH and deficient sense of smell is called Kallmann syndrome (KS; incidence 1:30 000 in Finnish boys, and 1:125 000 in girls), which is due to misrouting of primitive GnRH neurons in utero from the olfactory placodal area to the developing ...

ea0028s3.4 | Testosterone in men: how long can you go? | SFEBES2012

Can testosterone therapy be stopped in some hypogonadal patients?

Raivio Taneli

Congenital hypogonadotropic hypogonadism (HH) is characterized by deficient secretion and/or action of GnRH. The combination of hyposmia/anosmia and HH is termed Kallmann syndrome (minimal incidence estimate for men 1:30 000 and 1:125 000 in women, Laitinen et al. OJRD 2011), and, when the sense of smell is intact, normosmic HH (nHH). Even 10% of CHH patients may undergo reversal of hypogonadotropism after the age of 20 yrs (Raivio T et al. NEJM 2007), and the mo...

ea0056mte3 | (1) | ECE2018

Managing delayed puberty

Raivio Taneli

Delayed puberty (DP) is traditionally defined as the absence of testicular enlargement by the age of 14 years in boys and absence of breast development by 13 years in girls (1). In both sexes, DP is most frequently caused by constitutional delay of growth and puberty (CDGP), which represents a late variant of the normal timing of puberty (1-3). Other possible causes for DP include permanent hypogonadotropic hypogonadism (HH), functional hypogonadotropic hypogonadism and hyperg...

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), ...