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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

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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

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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

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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

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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

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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

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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

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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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Mikkel Andreassen, Anders Juul, Ulla Feldt-Rasmussen and Niels Jørgensen

hypogonadotropic hypogonadism and anosmia (the Kallmann syndrome) . Journal of Clinical Endocrinology and Metabolism 1980 51 275 – 279 . ( https://doi.org/10.1210/jcem-51-2-275 ) 10.1210/jcem-51-2-275 30 Pugeat M Crave JC Tourniaire J Forest MG. Clinical

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Elena Galazzi, Paolo Duminuco, Mirella Moro, Fabiana Guizzardi, Nicoletta Marazzi, Alessandro Sartorio, Sabrina Avignone, Marco Bonomi, Luca Persani and Maria Teresa Bonati

Le Bouc Y , et al . Insulin-like peptide 3 (INSL3) in men with congenital hypogonadotropic hypogonadism/Kallmann syndrome and effects of different modalities of hormonal treatment: a single-center study of 281 patients . Journal of Clinical