Results 1 to 10 of about 2,707 (125)

Kallmann syndrome in a girl caused by a novel CHD7 variant [PDF]

中国当代儿科杂志
This article reports the case of a 15-year-old girl with primary amenorrhea and olfactory dysfunction. Evaluation demonstrated hypogonadotropic hypogonadism, and an initial clinical diagnosis of Kallmann syndrome was made.
SUN Rui-Jie, ZHANG Xing-Xing
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A bibliometric analysis of Kallmann syndrome: trends, hotspots, and future directions [PDF]

Orphanet Journal of Rare Diseases
Background Kallmann syndrome (KS) is a rare congenital disorder characterized by hypogonadotropic hypogonadism secondary to deficient gonadotropin-releasing hormone (GnRH) secretion, often accompanied by partial or complete anosmia.
Hailei Han, Bin Ma, Jinmi Liu, Donglin Chai, Qinghua Sun, Ruiqing Zhang, Yanqing Guo   +6 more
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When Lifelong Anosmia Reveals Hypogonadism: A Case of Kallmann Syndrome with Primary Amenorrhea [PDF]

International Journal of Women's Health
Jacklyn Yosefin Gracia Lubis, Artha Falentin Putri Susilo, Ruswana Anwar, Anita Rachmawati Obstetrics and Gynecology Department, Faculty of Medicine, Padjadjaran University – Dr.
Lubis JYG, Susilo AFP, Anwar R, Rachmawati A   +3 more
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Kallmann syndrome revealed by primary amenorrhea: Phenotypic variability and diagnostic challenges—A report of three cases [PDF]

Radiology Case Reports
Kallmann syndrome is a rare form of congenital hypogonadotropic hypogonadism associated with anosmia or hyposmia. We describe 3 female patients aged 17, 17, and 22 years who were evaluated for primary amenorrhea and reported lifelong anosmia.
Fatima Toulali, MD, Rim Laaboudi, MD, Hounaida Mahfoud, MD, Amal Lahfidi, MD, Kaoutar Rifai, MD, Fatima Elhassouni, MD, Hinde Iraqi, MD, Mohammed El hassan Gharbi, MD, Samir Bargach, MD   +8 more
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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
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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
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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
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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
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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
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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
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