Results 1 to 10 of about 2,952 (186)

De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann Syndrome [PDF]

Case Reports in Endocrinology
Conclusion: These results broaden the mutation spectrum of TCF12. More importantly, this study argues for the etiological relationship between TCF12 variants and isolated Kallmann syndrome.
Erina Suzuki, Hirohito Shima, Aki Ueda, Kazuhiko Nakabayashi, Keiko Matsubara, Yoko Kuroki, Junko Kanno, Maki Fukami   +7 more
doaj   +4 more sources

PROKR2 mutations and SPRY4 variants with uncertain significance in a Kallmann syndrome family: Incomplete penetrance [PDF]

Global Medical Genetics
Kallmann syndrome is a rare genetic disease characterized by the idiopathic hypogonadotropic hypogonadism with hyposmia or anosmia, which exhibits considerable heterogeneity in genotype and phenotype.
Yuanfan Yuan, Qianqian Huang, Jiehan Zhang, Zehua Zhou, Qing Wan, Lulu Chen, Tianshu Zeng, Huiqing Li, Qiao Zhang, Xiang Hu   +9 more
doaj   +3 more sources

A novel mutation in ANOS1 in a Chinese family with Kallmann syndrome: Case report [PDF]

Clinical Case Reports
Key Clinical Message We reported a novel variant in Kallmann syndrome. It not only determines the clinical importance of whole exome sequencing for identification of genetic pathogenic variants, but also enriches the ANOS1 genetic spectrum of CHH ...
Rong Jiang, Xueting Qiu, Xingfa Han, Zhimin Ma   +3 more
doaj   +3 more sources

Deletion in RMST lncRNA impairs hypothalamic neuronal development in a human stem cell-based model of Kallmann Syndrome [PDF]

Cell Death Discovery
Rhabdomyosarcoma 2-associated transcript (RMST) long non-coding RNA has previously been shown to cause Kallmann syndrome (KS), a rare genetic disorder characterized by congenital hypogonadotropic hypogonadism (CHH) and olfactory dysfunction.
Gowher Ali, Kyung Chul Shin, Nisar Ahmed, Wesal Habbab, Ghaneya Alkhadairi, Aleem Razzaq, Yosra Bejaoui, Nady El Hajj, Borbala Mifsud, Yongsoo Park, Lawrence W. Stanton   +10 more
doaj   +3 more sources

Co-occurrence of a Mullerian anomaly and Kallmann syndrome: A case report [PDF]

Case Reports in Women's Health
The evaluation of primary amenorrhea requires a thoughtful assessment for hormonal, structural and/or genetic causes. Although most cases of primary amenorrhea are caused by a single pathology, rarely multiple pathologies may be uncovered. We present the
Lea C. George, Rebecca Gendelman, Anat Chemerinski, Pierre Lespinasse, Inessa A. Goldman, Sara Morelli   +5 more
doaj   +3 more sources

A novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome [PDF]

Endocrinology, Diabetes & Metabolism Case Reports, 2021
The underlying genetic drivers of Kallmann syndrome, a rare genetic disorder characterized by anosmia and hypogonadotropic hypogonadism due to impairment in the development of olfactory axons and in the migration of gonadotropin-releasing hormone (GNRH ...
Tetsuji Wakabayashi, Akihito Takei, Nobukazu Okada, Miki Shinohara, Manabu Takahashi, Shuichi Nagashima, Kenta Okada, Ken Ebihara, Shun Ishibashi   +8 more
doaj   +2 more sources

Unusual coexistence of restrictive heart disease and Kallmann syndrome: a case report [PDF]

The Egyptian Heart Journal
Background Kallmann–Morsier syndrome is a rare disease characterized by the association of congenital gonadotropic deficiency and anosmia or hyposmia. The cardiac manifestations associated with this syndrome are little known.
Ghali Bennani, Soukaina Zahri, Mohamed Khaldi, Ghali Benouna, Abdenasser Drighil, Rachida Habbal   +5 more
doaj   +2 more sources

Case Report: Multiple prolactinomas in a young man with Kallmann syndrome and familial hypocalciuric hypercalcemia [PDF]

Frontiers in Endocrinology, 2023
IntroductionThe occurrence of prolactinomas in sex hormone treated patients with central hypogonadism is extremely rare.Case presentationWe present a Caucasian male patient who was diagnosed with Kallmann syndrome (KS) at age 15 years.
Mojca Jensterle, Mojca Jensterle, Andrej Janež, Andrej Janež, Tina Vipotnik Vesnaver, Maruša Debeljak, Maruša Debeljak, Nika Breznik, Katarina Trebušak Podkrajšek, Katarina Trebušak Podkrajšek, Rok Herman, Rok Herman, Eric Fliers, Tadej Battelino, Tadej Battelino, Magdalena Avbelj Stefanija, Magdalena Avbelj Stefanija   +16 more
doaj   +2 more sources

A rare disease of Kallmann syndrome: A case report [PDF]

Radiology Case Reports, 2023
Kallmann syndrome (KS) is a rare genetic disorder that refers to the association between hypogonadotropic hypogonadism and anosmia or hyposmia due to abnormal migration of olfactory axons and gonadotropin-releasing hormone-producing neurons.
Syawaluddin Hilman, MD, Dian Komala Dewi, MD, Euis Kartika, MD   +2 more
doaj   +2 more sources

Identification and Functional Characterization of a Novel Variant in the SEMA3A Gene in a Chinese Family with Kallmann Syndrome [PDF]

International Journal of Endocrinology, 2022
Background. Kallmann syndrome (KS) is a rare genetic disease characterized by the reproductive system and olfactory dysplasia due to the defective migration of gonadotropin-releasing hormone (GnRH) neurons.
Meng Shu, Huixiao Wu, Shuoshuo Wei, Yingzhou Shi, Zongyue Li, Yiping Cheng, Li Fang, Chao Xu   +7 more
doaj   +2 more sources