Kallmann syndrome (KAL1, FGFR1, PROK2, PROK2R were evaluated and no mutations resulted). He had a 46,XY karyotype and a 568 kb pure duplication on the 15q26.3 chromosome, diagnosed by array-CGH. This duplication was not detected in the mother. The father
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Rossella Cannarella, Teresa Mattina, Rosita A Condorelli, Laura M Mongioì, Giuseppe Pandini, Sandro La Vignera, and Aldo E Calogero
Elena Galazzi, Paolo Duminuco, Mirella Moro, Fabiana Guizzardi, Nicoletta Marazzi, Alessandro Sartorio, Sabrina Avignone, Marco Bonomi, Luca Persani, and Maria Teresa Bonati
hypogonadism/Kallmann syndrome and effects of different modalities of hormonal treatment: a single-center study of 281 patients . Journal of Clinical Endocrinology and Metabolism 2014 99 E268 – E275 . ( https://doi.org/10.1210/jc.2013-2288 ) 26 Young J
Kirsten Davidse, Anneloes van Staa, Wanda Geilvoet, Judith P van Eck, Karlijn Pellikaan, Janneke Baan, Anita C S Hokken-Koelega, Erica L T van den Akker, Theo Sas, Sabine E Hannema, Aart Jan van der Lely, and Laura C G de Graaff
-Albright syndrome 1 DAX1 gene mutation 1 Toxic thyroid adenoma 1 Kallmann syndrome 1 Prolactinoma 4 Multiple endocrine neoplasia syndrome type 2A 4 Ovotesticular disorder of sex development 1 Childhood
Lisette van Alewijk, Kirsten Davidse, Karlijn Pellikaan, Judith van Eck, Anita C S Hokken-Koelega, Theo C J Sas, Sabine Hannema, Aart J van der Lely, and Laura C G de Graaff
-acquired) and underlying aetiology (37) 2 Sex chromosome mosaicism (45X/46XY) 1:1300 (prevalence) (44) 2 Premature Ovarian Failure 1:10,000 of women < 30 years old (45) 2 Hypogonadotropic hypogonadism (including Kallmann syndrome
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
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
Tristan Avril, Quentin Hennocq, Anne-Sophie Lambert, Juliane Leger, Dominique Simon, Laetitia Martinerie, and Claire Bouvattier
-Gauillard H Cartes A Bouligand J Young J . Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life . Orphanet Journal of Rare Diseases 2015 10 71. ( https://doi.org/10.1186/s13023-015-0287-9 ) 8 Kohva E Huopio H Hietamäki J
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