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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

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

Open access

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

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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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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

Open access

Shota Dzemaili, Jitske Tiemensma, Richard Quinton, Nelly Pitteloud, Diane Morin, and Andrew A Dwyer

. Living with Kallmann syndrome – analysis of subjective experience reports from women . Geburtshilfe Frauenheilkd 2013 73 1112 – 1120 . ( doi:10.1055/s-0033-1350881 ) 31 DiMatteo MR Lepper HS Croghan TW. Depression is a risk factor

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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

Open access

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

Open access

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

Open access

Agnieszka Pazderska, Yaasir Mamoojee, Satish Artham, Margaret Miller, Stephen G Ball, Tim Cheetham, and Richard Quinton

:// ) 27647266 10.1111/cen.13236 6 Smith N Quinton R. Kallmann syndrome . BMJ 2012 345 e6971 . ( ) 10.1136/bmj.e6971 23207501 7 Howard S Dunkel L. Sex steroid and

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Kristian Almstrup, Hanne Frederiksen, Anna-Maria Andersson, and Anders Juul

transporter, highly expressed in liver SLC45A4 Σphth.m Σphth.m Σphth.m No Involved in cognitive functions (51) SOX10 Σphth.m Σphth.m Σphth.m Yes Involved in Kallmann syndrome (52) and hypogonadotropic hypogonadism (53