neurons is accompanied by the development and/or migration of the olfactory system in the early fetus, patients with Kallmann syndrome (KS) manifest a combined dysfunction of the GnRH and olfactory systems ( 2 ). IGD is also associated with a normal sense
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Ja Hye Kim, Yunha Choi, Soojin Hwang, Ji-Hee Yoon, Jieun Lee, Min Jae Kang, Gu-Hwan Kim, Han-Wook Yoo, and Jin-Ho Choi
Ja Hye Kim, Yunha Choi, Soojin Hwang, Gu-Hwan Kim, Han-Wook Yoo, and Jin-Ho Choi
full clinical features of CHARGE syndrome. CHD7 variants have been identified in normosmic isolated hypogonadotropic hypogonadism (nIHH), Kallmann syndrome (KS), self-limited delayed puberty, as well as CHARGE syndrome ( 3 , 4 , 5 , 6 , 7
Rui-yi Tang, Rong Chen, Miao Ma, Shou-qing Lin, Yi-wen Zhang, and Ya-ping Wang
, including deafness, renal abnormalities and digital anomalies ( 1 , 2 ). Furthermore, IHH can be categorized according to olfactory function as IHH with a normal sense of smell (normosmic IHH; nIHH) and IHH with anosmia/hyposmia (Kallmann syndrome; KS
Catarina I Gonçalves, José M Aragüés, Margarida Bastos, Luísa Barros, Nuno Vicente, Davide Carvalho, and Manuel C Lemos
hormone deficiencies. CHH may occur associated with anosmia, a condition referred as Kallmann syndrome, or may occur without associated olfactory abnormalities, referred to as normosmic CHH (nCHH) ( 1 ). Genetic studies of patients with CHH have identified
Anna-Pauliina Iivonen, Johanna Känsäkoski, Kirsi Vaaralahti, and Taneli Raivio
hypogonadotropic hypogonadism is called normosmic (ncHH) if patients have normal sense of smell, whereas Kallmann syndrome (KS) is a form of the same disease where patients have absent or deficient smell ( 2 ). In the case of normosmic cHH, abnormal GnRH function
M I Stamou, P Varnavas, L Plummer, V Koika, and N A Georgopoulos
heterogeneous IGD only ~50% of patients have a genetic mutation that is identifiable ( 2 , 6 ). Mutations in genes that disrupt the neurodevelopmental pathway of GnRH, that is the development and migration of GnRH neurons cause Kallmann Syndrome (KS), and
Fernanda A Correa, Ericka B Trarbach, Cintia Tusset, Ana Claudia Latronico, Luciana R Montenegro, Luciani R Carvalho, Marcela M Franca, Aline P Otto, Everlayny F Costalonga, Vinicius N Brito, Ana Paula Abreu, Mirian Y Nishi, Alexander A L Jorge, Ivo J P Arnhold, Yisrael Sidis, Nelly Pitteloud, and Berenice B Mendonca
/or Kallmann syndrome (KS), such as midline cerebral and facial defects (3) . The adenohypophyseal and olfactory placodes share a common embryological origin as they both emerge from the preplacodal field, which could explain this overlap (4) . FGFR1, a
Agnieszka Pazderska, Yaasir Mamoojee, Satish Artham, Margaret Miller, Stephen G Ball, Tim Cheetham, and Richard Quinton
undergoing pubertal induction with testosterone at our centre since 1998 – aged 35 years or older. The diagnoses comprised Kallmann’s syndrome ( n = 5), normosmic CHH ( n = 1) and CHARGE syndrome ( n = 1). Their clinical ‘vignettes’ are detailed in
Shota Dzemaili, Jitske Tiemensma, Richard Quinton, Nelly Pitteloud, Diane Morin, and Andrew A Dwyer
hypogonadotropic hypogonadism and Kallmann’s syndrome): pathophysiological and genetic considerations . Endocrine Reviews 1998 19 521 – 539 . 8 Quinton R Duke VM Robertson A Kirk JM Matfin G de Zoysa PA Azcona C MacColl GS
Luca Persani, Biagio Cangiano, and Marco Bonomi
anomalies) with ectopic posterior pituitary and variable LH/FSH, TSH and GH defects FGFR1 136350 AD Kallmann’s syndrome (KS) and normosmic congenital hypogonadotropic hypogonadism (nCHH), variable association with defects of other pituitary
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