Results 41 to 50 of about 278,652 (177)

Patient with adrenal insufficiency due to a de novo mutation in the NR0B1 gene

Advances in Laboratory Medicine, 2023
Congenital X-linked adrenal hypoplasia is a rare disease with a known genetic basis characterized by adrenal insufficiency, hypogonadotropic hypogonadism, and a wide variety of clinical manifestations.
Bravo Nieto Daniel, García Fernández Alba S., Díaz Troyano Noelia, Arnaiz Marina Giralt, Arias García Andrea, Fernández Álvarez Paula, Campos Martorell Ariadna, Ferrer Costa Roser, Clemente León María   +8 more
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Correlation between different FGFR1 mutations and congenital hypogonadotropic hypogonadism [PDF]

Jichu yixue yu linchuang, 2023
Objective To investigate whether multiple gene mutations were existed to cause congenital hypogonadotropic hypogonadism(CHH), by screening genes in CHH patients with FGFR1 mutations. Methods FGFR1 mutations were identified in 15 CHH patients. Other CHH-
YANG Yufan, WANG Xi, NIE Min, WU Xueyan, MAO Jiangfeng
doaj   +1 more source

Congenital hypogonadotropic hypogonadism: from clinical characteristics to genetic aspects [PDF]

Precision and Future Medicine, 2021
Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by a deficiency in gonadotropin-releasing hormone (GnRH). CHH is characterized by delayed puberty and/or infertility; this is because GnRH is the main component of the hypothalamic ...
Ahreum Kwon, Ho-Seong Kim
doaj   +1 more source

Evaluation of sexual functional status and consistency of scales in patients with hypogonadotropic hypogonadism before and after testosterone replacement therapy: a single-center experience [PDF]

Archives of Endocrinology and Metabolism, 2023
Objective: This study aimed to investigate the frequency of sexual dysfunction and the effect of short-term testosterone replacement therapy on sexual functions in congenital hypogonadism patients.
Umit Aydogan, Yusuf Cetin Doganer, Cem Haymana, Umit Kaplan, Aydogan Aydogdu, Ibrahim Demirci, Coskun Meric, Yusuf Alper Sonmez   +7 more
doaj   +1 more source

A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene [PDF]

, 2021
Rationale: This study aimed to investigate the genetic mutation characteristics of congenital idiopathic hypogonadotropic hypogonadism (IHH) through the clinical features and genetic analysis of 2 patients with IHH in 1 pedigree. Patient concerns:
Yang, C, Tang, H, Huiru Tang, Fang, G, Yan Tan, Wang, L, Xuelai Wang, Wang, K, Tang, S, Cui, X, Chen, C, Shanmei Tang, Chuanchun Yang, Wang, X, Xiaohong Li, Guangguang Fang, Tan, Y, Weisheng Lin, Xiaoli Cui, Chuan Chen, Lijuan Zhang, Lin, W, Li, X, Liping Wang, Zhang, L, Kai Wang   +25 more
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Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1 [PDF]

, 2002
DAX-1 [dosage-sensitive sex reversal, adrenal hypoplasia congenital (AHC) critical region on the X chromosome, gene 11 is a transcription factor expressed in the adrenal gland and at all levels of the gonadotrope axis.
Gaillard, R.C., Schorderet, D., Schorderet, D, Jameson, J.L., Pralong, F.P., Gaillard, RC, Fiaux, M., Achermann, JC, Salvi, R, Achermann, J.C., Gomez, F, Fiaux, M, Pralong, FP, Jameson, JL, Salvi, R., Gomez, F.   +15 more
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GNRHR-related central hypogonadism with spontaneous recovery – case report

Italian Journal of Pediatrics, 2022
Background Congenital hypogonadotropic hypogonadism (CHH) is a clinically and genetically heterogeneous disease characterized by absent or incomplete puberty and infertility.
Darja Šmigoc Schweiger, Maja Davidović Povše, Katarina Trebušak Podkrajšek, Tadej Battelino, Magdalena Avbelj Stefanija   +4 more
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Congenital hypogonadotropic hypogonadism due to GnRH receptor mutations in three brothers reveal sites affecting conformation and coupling [PDF]

, 2012
Congenital hypogonadotropic hypogonadism (CHH) is characterized by low gonadotropins and failure to progress normally through puberty. Mutations in the gene encoding the GnRH receptor (GNRHR1) result in CHH when present as compound heterozygous or ...
Newton, Claire, Young, Jacques, Claire L Newton, Millar, Robert, Guiochon-Mantel Anne, Young Jacques, Guiochon-Mantel, Anne, Millar, Robert P., Bouligand, Jerome, Newton Claire L., Millar, Robert P, Tello Javier A., Tello, Javier, Anne Guiochon-Mantel, Newton, Claire L, Tello, Javier A., Millar Robert P., Robert P Millar, Jerome Bouligand, Jacques Young, Bouligand Jerome, Tello, Javier A, Javier A Tello, Newton, Claire Louise, Tello, Javier; id_orcid   +24 more
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R31C GNRH1 mutation and congenital hypogonadotropic hypogonadism. [PDF]

PLoS ONE, 2013
Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare reproductive disease leading to lack of puberty and infertility. Loss-of-function mutations of GNRH1 gene are a very rare cause of autosomal recessive nCHH.
Luigi Maione, Frederique Albarel, Philippe Bouchard, Megan Gallant, Colleen A Flanagan, Regis Bobe, Joelle Cohen-Tannoudji, Rosario Pivonello, Annamaria Colao, Thierry Brue, Robert P Millar, Marc Lombes, Jacques Young, Anne Guiochon-Mantel, Jerome Bouligand   +14 more
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NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice [PDF]

, 2022
The nitric oxide (NO) signaling pathway in hypothalamic neurons plays a key role in the regulation of the secretion of gonadotropin-releasing hormone (GnRH), which is crucial for reproduction.
Chachlaki, Konstantina; https://orcid.org/, Lang-Muritano, Mariarosaria; https://orcid.org/, Messina, Andrea; https://orcid.org/, et al, Delli, Virginia; https://orcid.org/, Giacobini, Paolo, Kempf, P., Maurnyi, Csilla, Ternier, G., Hrabovszky, Erik, Skrapits, K., Lang-Muritano, Mariarosaria, Storme, L., Delli, Virginia, Ciofi, Philippe, Garthwaite, J., Santoni, F., Rasika, S., Santoni, Federico, Maurnyi, C., Hrabovszky, E., Leysen, Valerie, Kapanidou, M., Niederländer, Nicolas J, Cheng, X., Tena-Sempere, M., Tena-Sempere, Manuel, Prevot, Vincent, NIEDERLANDER, Nicolas J., Kapanidou, Maria, Rademaker, J., Catteau-Jonard, S., Rasika, Sowmyalakshmi, Messina, Andrea, Ternier, Gaëtan, Quinton, Richard, Pignatelli, Duarte, Kempf, Patrick, Niedziela, M., L'Allemand, D., Rademaker, Jesse, Shruti, Sonal, Acierno, James, Niederländer, Nicolas, Niederländer, N.J., Quinton, R., Prevot, V., Dirlewanger, Mijam, Leysen, V., Chachlaki, Konstantina, Pitteloud, Nelly, Skrapits, Katalin, Chachlaki, K., Pitteloud, N., Papadakis, Georgios, Storme, Laurent, Avan, P., Acierno, J., Lang-Muritano, M., Rasika, S, Cheng, Xu, Niedziela, Marek, Carleton, A., Catteau-Jonard, Sophie, Garthwaite, John, Avan, Paul, Papadakis, G., Messina, A., Dirlewander, M., Pignatelli, D., Shruti, S., Dirlewander, Mirjam, Delli, V., Carleton, Alan, L'Allemand, Dagmar, L’allemand, Dagmar, Ciofi, P., Huber, C., Huber, Chieko, Giacobini, P.   +79 more
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