Results 11 to 20 of about 2,952 (186)
Pediatric Neurology Briefs, 1993 The clinical, biological, and molecular genetic aspects of Kallmann syndrome are reported from the Institute of Molecular Genetics, Baylor College of Medicine, Houston, TX.
J Gordon Millichap
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Kallmann syndrome: MRI findings
Indian Journal of Endocrinology and Metabolism, 2013 Kallmann syndrome (KS) is a disease clinically characterized by the association of hypogonadotrophic hypogonadism and anosmia or hyposmia. It is a neuronal migration disorder.
Houneida Zaghouani +5 more
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Kallmann Syndrome in a pediatric patient with delayed puberty in Mexico: case report
Revista Mexicana de Endocrinología, Metabolismo y NutriciónKallmann syndrome is a low-frequency pathology that mainly affects men. This case report aims to present the management of a pediatric patient diagnosed with Kallmann syndrome in Mexico.
Yeni Calvillo-Romero +4 more
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European Journal of Human Genetics, 2008 The Kallmann syndrome (KS) combines hypogonadotropic hypogonadism (HH) with anosmia. This is a clinically and genetically heterogeneous disease. KAL1, encoding the extracellular glycoprotein anosmin-1, is responsible for the X chromosome-linked recessive form of the disease.
Catherine Dodé, Jean‐Pierre Hardelin
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A case of novel mutation in ANOS1 (KAL1) gene and review of Kallmann syndrome. [PDF]
Endocrinol Diabetes Metab Case Rep, 2023 Arora S, Yeliosof O, Chin VL.
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A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly. [PDF]
Clin Pediatr Endocrinol, 2023 Uchida N +8 more
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PROK2 / PROKR2 signaling and Kallmann syndrome [PDF]
Frontiers in Endocrinology, 2013 Kallmann syndrome (KS) is a developmental disease that associates hypogonadism and a deficiency of the sense of smell. The reproductive phenotype of KS results from the primary interruption of the olfactory, vomeronasal and terminal nerve fibers in the ...
Catherine eDodé, Philippe eRondard
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Recent advances in understanding and managing Kallmann syndrome. [PDF]
Fac Rev, 2021 Swee DS, Quinton R, Maggi R.
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Pediatria PolskaThis report details a case of a female patient with genetically confirmed Kallmann syndrome, which was found to be related to a novel molecular variant of the FGFR1 gene. We present a case of a 12-year-old girl, referred to the Pediatric and Adolescent
Karina Matusiak +1 more
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Clinico-hormonal Parameters as a Primary Step to Differentiate Normosmic Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome in a Tertiary Care Hospital in Eastern India [PDF]
Journal of Clinical and Diagnostic Research, 2021 Introduction: Idiopathic hypogonadotropic hypogonadism is a rare gonadal dysgenesis in which puberty does not take place naturally. It occurs due to insufficient pulsatile secretion of Gonadotrophin-Releasing Hormone (GnRH) and the resulting Follicle-
Ram Chandra Bhadra +2 more
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