Results 31 to 40 of about 2,952 (186)

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. [PDF]

PLoS Genetics, 2006
Kallmann syndrome combines anosmia, related to defective olfactory bulb morphogenesis, and hypogonadism due to gonadotropin-releasing hormone deficiency.
Catherine Dodé, Luis Teixeira, Jacqueline Levilliers, Corinne Fouveaut, Philippe Bouchard, Marie-Laure Kottler, James Lespinasse, Anne Lienhardt-Roussie, Michèle Mathieu, Alexandre Moerman, Graeme Morgan, Arnaud Murat, Jean-Edmont Toublanc, Slawomir Wolczynski, Marc Delpech, Christine Petit, Jacques Young, Jean-Pierre Hardelin   +17 more
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A case of Kallmann syndrome [PDF]

BMJ Case Reports, 2011
Kallmann syndrome (KS), a rare genetic disorder, refers to the association between hypogonadotropic hypogonadism and anosmia or hyposmia due to abnormal migration of olfactory axons and gonadotropin-releasing hormone producing neurons.The authors report a case of a 26-year-old Filipino male who presented with eunuchoid body proportion, absence of ...
Frances Lina Lantion-Ang, Francis Raymond P Arkoncel, Maria Luisa Cecilia R Arkoncel   +2 more
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Kallmann Syndrome: Eugenics and the Man behind the Eponym

Rambam Maimonides Medical Journal, 2016
Kallmann syndrome is named after Franz Joseph Kallmann, a German-born psychiatrist who described in 1944 twelve subjects from three families who presented with a syndrome of missed puberty, anosmia, and color blindness. Yet, several other eponyms for the
Carlos A. Benbassat
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Síndrome de Kallmann

Brazilian Journal of Health Review, 2022
INTRODUÇÃO: A síndrome de Kalmann(SK) é definida pela associação de hipogonadismo hipogonadotrófico e anosmia ou hiposmia. E pode apresentar anomalias associadas, como perda auditiva, agenesia renal, sincinesia, fissura labiopalatina e agenesia dentária. APRESENTAÇÃO DO CASO: Paciente do sexo masculino, 12 anos de idade, admitido no Hospital Regional
Prado, Alana Layla Bueno, Sousa, Leonardo Rodrigues, Júnior, Liélio Vieira Lessa, Lima, Lucas Costa de Aranda, Rodrigues, Lucas Manrique, Citadin, Marielle Soratto, Oliveira, Gabriella Mendonça Leão de, Nascimento, Geovanna Borges do, Vaz, Gleiciane Ramos, Lourenço, Hellen Larissa de Oliveira, Assis, Marina Rocha, Matos, Rafael Carvalho Maganhoto de, Kuntz, Lorena de Oliveira, Nogueira, Lucas Francisco Soares, Oliveira, Maria Clara Gomes, Carneiro, Suzana Alves Mundim, Mendonça, Thaíne Inácio de, Guariente , Ana Carolina Vinhaes, Genaro, Sylvia de Sousa, Ruggio, Polyana Fernandes, Dourado, Thais Lima   +20 more
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Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report

BMC Medical Genomics, 2022
Background The deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes.
Jincheng Dai, Jun Zeng, Hongxi Tan, Xiangsheng Cai, Benqing Wu   +4 more
doaj   +1 more source

Kallmann Syndrome [PDF]

Neuron, 2002
Three new studies into the function of human anosmin-1 and related proteins in C. elegans and rodents show that these influence axon branching and axon targeting. The rodent anosmin appears to work at two stages of development, initially promoting axon outgrowth from the olfactory bulb and then stimulating branching from axons into the olfactory cortex.
Gavin MacColl, Pierre Bouloux, Richard Quinton   +2 more
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Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome

Endocrinology, Diabetes & Metabolism Case Reports, 2017
Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic ...
Irene Berges-Raso, Olga Giménez-Palop, Elisabeth Gabau, Ismael Capel, Assumpta Caixàs, Mercedes Rigla   +5 more
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Kallmann's Syndrome and Schizophrenia

The International Journal of Psychiatry in Medicine, 2004
Objective: Kallmann's Syndrome is a heritable disorder characterized by the association of hypogonadotropic hypogonadism and anosmia or hyposmia. A common pathogenesis for KS and schizophrenia had been proposed based on shared pathologies of these two disorders, although no such clinical associations have ever been reported. Method: We report a 35 year
Vagenakis, G. A., Hyphantis, T. N., Papageorgiou, C., Protonatariou, A., Sgourou, A., Dimopoulos, P. A., Mavreas, V., Vagenakis, A. G., Georgopoulos, N. A.   +8 more
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Kallmann's syndrome: a visual vignette [PDF]

BMJ Case Reports, 2015
Kallmann's syndrome is a rare form of idiopathic hypogonadotropic hypogonadism; impaired sense of smell and absent olfactory bulb are the hallmarks of this disease.1 ,2A 20-year-old man presented to us for evaluation of symptoms of a small-sized penis and testis, and poorly developed secondary sexual characteristics.
Riddhi Dasgupta, Nihal Thomas, Felix K Jebasingh   +2 more
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A case of idiopathic hypogonadotropic hypogonadism with dental and orofacial defects: A key to the perception of possible molecular etiology

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2022
Isolated deficiency of gonadotropin-releasing hormone is a heterogeneous disorder with wide genetic and clinical overlap. It mainly presents as hypogonadotropic hypogonadism (HH).
Adity Bansal, Prashant Kumar Verma, Rahul Bhakat, Ashi Chug, Srinivas Gosla Reddy   +4 more
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