Endocrine Abstracts

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 ...

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...

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...

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), ...