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#1. 財團法人罕見疾病基金會
Kallmann氏症候群 ( Kallmann Syndrome ). 現階段政府公告之罕見疾病: 有. 是否已發行該疾病之宣導單張: 沒有. ICD-9-CM診斷代碼:253.4. ICD-10-CM診斷代碼:E23.0 病因 ...
卡門氏症候群(英語:Kallmann syndrome)是一種罕見的遺傳性疾病,其特點是患者無法進入青春期或青春期發育不完全。該疾病也伴隨嗅覺喪失或嗅覺減退。
◎疾病名稱: Kallmann 氏症候群( Kallmann Syndrome ). 彰化基督教醫院諮詢顧問 ... 卡爾曼綜合症(Kallmann Syndrome ; KS)[1] 不會危及生命。主要特徵是青春期跡. 象 ...
#4. Kallmann Syndrome - StatPearls
Kallmann syndrome (KS) is a congenital form of hypogonadotropic hypogonadism (HH) that manifests with hypo- or anosmia.
#5. Kallmann syndrome - Genetics
Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell. This disorder is a form of ...
卡門症侯群(Kallmann Syndrome). X染色體末端的基因缺陷,先天性腦下垂體荷爾蒙激性腺素釋放素分泌不足(Gonadotropin releasing hormone ,GnRH) ...
#7. Kallmann Syndrome | Children's Hospital of Philadelphia
Kallmann syndrome combines an impaired sense of smell with a hormonal disorder that delays or prevents puberty. The hormonal disorder is due to underdevelopment ...
#8. Kallmann Syndrome: Treatment, Symptoms & Research
Kallmann syndrome is a condition that's characterized by absent or delayed puberty and a lack or loss of sense of smell. Kallmann syndrome ...
#9. Kallmann Syndrome and Idiopathic Hypogonadotropic ...
Classic Kallmann syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH) are rare genetic conditions that encompass the spectrum of ...
#10. Kallmann Syndrome - Symptoms, Causes, Treatment | NORD
Kallmann syndrome (KS) is a rare genetic disorder in humans that is defined by a delay/absence of signs of puberty along with an absent/impaired ...
#11. Kallmann syndrome
Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to ...
#12. Kids Health Information : Kallmann syndrome
Kallmann syndrome is a condition where the body does not make enough of a hormone called gonadotrophin-releasing hormone (GnRH). The role of GnRH is to ...
#13. 卡曼氏症候群患者(Kallmann Syndrome)在KAL-1基因上 ...
卡曼氏症候群(Kallmann syndrome)患者是一群屬原發性促性腺激素分泌不足的性腺發育低下症(idiopathic hypogonadotropic hypogonadism)且伴隨嗅覺低下(hyposmia)或 ...
#14. Kallmann Syndrome - an overview
Kallmann syndrome is hypogondotropic hypogonadism with abnormal olfactory function (anosmia or hyposmia) in humans, which is caused by failed migration of GnRH ...
#15. Kallmann Syndrome: Symptoms, Causes, Treatment, and ...
Kallmann syndrome is an inherited genetic condition present at birth. It results in a reduced or absent sense of smell and delayed or absent ...
#16. 卡爾曼綜合徵Kallmann Syndrome: 最新的百科全書
...BACKGROUND Idiopathic (isolated) hypogonadotropic hypogonadism (IHH) is a rare disease that can be classified as Kallmann syndrome (KS) or normosmic IHH ( ...
#17. insights into X-linked and autosomal-dominant Kallmann ...
Kallmann syndrome (KS) is a disorder characterized by hypogonadotropic hypogonadism and anosmia. Although KS is genetically heterogeneous, only two causal ...
#18. Kallmann syndrome: Video, Anatomy & Definition
Kallmann syndrome is an endocrine disorder caused by a decrease in sex hormones, either testosterone in males or estrogen and progesterone in females. That ...
#19. 卡曼氏症候群患者(Kallmann+Syndrome)在KAL-1基因上 ...
卡曼氏症候群(Kallmann syndrome)患者是一群屬原發性促性腺激素分泌不足的性腺發育低下症(idiopathic hypogonadotropic hypogonadism)且伴隨嗅覺低下(hyposmia) ...
#20. 卡爾曼氏症候群
卡爾曼氏症候群(Kallmann s syndrome ). 有一種疾病叫做卡爾曼氏症候群,患者的青春期會比同齡人晚,當年齡相近的人對異性開始感興趣時,他還懵懵懂懂。
#21. Kallmann syndrome | Radiology Reference Article
Citation, DOI, disclosures and article data ... Kallmann syndrome is a rare genetic disorder characterized by hypogonadotropic hypogonadism ...
#22. Kallmann Syndrome Treatment
Loss or reduced sensitivity to smell, called anosmia, is evident in patients with Kallman syndrome. This can also affect the sense of taste, and may change the ...
#23. Kallmann Syndrome
Kallmann syndrome is a form of congenital hypogonadotropic hypogonadism (CHH) which can also be be described as isolated GnRH deficiency. It can occur with a ...
#24. Kallmann Syndrome - Reproductive
A 15 year-old male does not demonstrate any signs of puberty. He is short for his age, his testicles show no evidence of enlargement, ...
#25. Late-diagnosed Kallmann syndrome | Endocrinología y ...
Kallmann syndrome is the most common form of isolated hypogonadotropic hypogonadism with delayed puberty. The syndrome characteristically includes GnRH ...
#26. What is Kallmann syndrome?
Also known as: KS, Hypogonadotropic hypogonadism 1 with or without anosmia. What is Kallmann syndrome? Kallman syndrome is a disorder in ...
#27. Kallmann syndrome
Kallmann syndrome is a genetic disorder in which hypogonadism (deficient function of gonads secondary to a deficiency in gonadotropin releasing hormone, or GnRH) ...
#28. Kallmann Syndrome: Causes, Symptoms, Treatment | Ro Man
When someone has Kallmann syndrome, their body has a difficult time making the main male and female sex hormones—namely, testosterone, estrogen, ...
#29. Kallmann syndrome
Kallmann syndrome is a form of secondary hypogonadism reflecting the fact the primary cause of the defect in sex hormone production lies within ...
#30. 卡曼氏症(Kallmann syndrome)?如何懷孕? - 洪上國醫師的 ...
卡曼氏症(Kallmann syndrome)的成因,是X染色體基因缺陷所致,造成先天性腦下垂體荷爾蒙刺激性腺素釋放素(Gonadotropin releasing hormone ,GnRH) ...
#31. Kallmann Syndrome: Hypogonadism in women and men
Kallmann syndrome is a genetic disease characterised by an absence of sex hormones (hypogonadism) due to a deficit of gonadotropin-GnRH (hypogonadotropic) ...
#32. Kallmann syndrome
Kallmann syndrome is a condition that is characterised by hypogonadotropic hypogonadism and reduced or absent olfactory sense due to an ...
#33. Molecular Pathogenesis of Kallmann's Syndrome
When occurring with anosmia (a lack of sense of smell), HH is referred to as Kallmann's syndrome (KS). Two KS-related loci are currently known: ...
#34. Kallmann Syndrome | Concise Medical Knowledge
Kallmann syndrome (KS), also called olfacto-genital syndrome, is a genetic condition that causes hypogonadotropic hypogonadism Hypogonadism ...
#35. Kallmann Syndrome
It is a congenital syndrome characterized by the association of hypogonadotropic hypogonadism with anosmia (or hyposmia). It is characterized by failure of ...
#36. Metabolomic alterations associated with Kallmann syndrome
KS is a condition that is characterized by hypogonadotropic hypogonadism and reduced or absent olfactory sense due to an anatomical defect of ...
#37. Congenital Hypogonadotropic Hypogonadism and ...
Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are genetic disorders that are rooted in a GnRH deficiency but often ...
#38. 卡爾曼氏症候群病人個案的分子遺傳學研究
卡爾曼氏症候群(Kallmann Syndrome)是X染色體及體染色體上基因缺陷所造成的遺傳疾病,主要是性腺激素功能低下與性腺功能低下伴隨嗅覺缺失或嗅覺低下。
#39. Kallmann syndrome: MR findings.
Kallmann syndrome : MR findings. J R Knorr, R L Ragland, R S Brown and N Gelber. American Journal of Neuroradiology July 1993, 14 (4) 845-851 ...
#40. WDR11‐mediated Hedgehog signalling defects underlie a ...
Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are classically defined by delayed puberty and infertility secondary to gonadotrophin- ...
#41. Kallmann syndrome: about eleven clinical cases | ECE2017
When CHH is associated with hyposmia or anosmia is designated by Kallmann Syndrome (KS). This syndrome is a genetic disorder with significant genetic ...
#42. Advances in Genetic Diagnosis of Kallmann Syndrome and ...
Kallmann syndrome (KS) is a hereditary disease characterized by congenital hypogonadotropic hypogonadism (CHH) and hyposmia or anosmia. Isolated ...
#43. Fertility and fragrance: another cause of Kallmann syndrome
Kallmann syndrome is an inherited deficiency of gonadotropin-releasing hormone (GnRH) that is characterized by hypogonadism with delayed or absent puberty ...
#44. Pediatric Kallmann Syndrome - Children's Health
Kallmann syndrome is one form of hypogonadotropic hypogonadism, a condition in which the body does not produce enough hormones needed for sexual development.
#45. Kallmann Syndrome disease
MedlinePlus Genetics: Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell.This disorder is a form of ...
#46. Kallmann Syndrome NGS Panel
Kallmann syndrome (KS) is a hypogonadotropic hypogonadism (HH) disorder that impairs sense of smell and serum concentrations of gonadotropins LH and FSH and ...
#47. Kallmann syndrome
Adult Kallmann syndrome (congenital hypogonadotropic hypogonadism with anosmia) is a developmental genetic disease primarily defined by delayed ...
#48. Kallmann syndrome and other CHH syndromes
It is classically divided into two main subgroups: the Kallmann Syndrome (KS) characterised by the association with anosmia or hyposmia and the normoosmic CHH ( ...
#49. Kallmann syndrome - an Osmosis Preview - YouTube
Watch the full video, for free, here! https://osms.it/kallmann_syndrome What is Kallmann syndrome ? Kallmann syndrome is a genetic condition ...
#50. Reversible Kallmann Syndrome, Delayed Puberty, and ...
Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder. Recently, loss-of-function mutations in the fibroblast growth factor receptor ...
#51. Kallmann Syndrome: From Genetics to Neurobiology
Kallmann syndrome represents the first human disease caused by a neuronal migration defect for which the gene has been identified and is a ...
#52. Incidence, Phenotypic Features and Molecular Genetics of ...
Kallmann syndrome (KS), comprised of congenital hypogonadotropic hypogonadism (HH) and anosmia, is a clinically and genetically heterogeneous ...
#53. 308700 - HYPOGONADOTROPIC HYPOGONADISM 1 ...
In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of ...
#54. Intragenic Deletion of the KALIG-1 Gene in Kallmann's ...
KALLMANN'S SYNDROME is an inherited disorder characterized by hypogonadism and anosmia. ... The hypogonadism is due to deficiency of gonadotropin- ...
#55. Kallmann Syndrome Care at Tufts ...
Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell. Programs + Services | Doctors + Care Team ...
#56. 630542: Kallmann Syndrome Genetic Panel
Kallmann Syndrome Genetic Panel ; Synonyms. Hypogonadotropic Hypogonadism ; Test Includes. ANOS1, AXL, CCDC141, CHD7, DUSP6, FEZF1, FGF8, FGF17, FGFR1, FLRT3, ...
#57. Kallmann syndrome and ichthyosis: a case of contiguous ...
Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by ...
#58. CHH and Kallmann syndrome
CHH and Kallmann syndrome ... Congenital hypogonadotropic hypogonadism (CHH) is characterised by a deficiency of the gonadotropin releasing ...
#59. Kallmann's syndrome | Neurology
Results: Hypertrophy of the corpus callosum was found in both Kallmann's syndrome groups: the anterior and midsection in xKS, and the genu and ...
#60. Learn about GnRH deficiency / Kallmann syndrome
One type of GnRH deficiency that occurs in conjunction with a lack of sense of smell, called anosmia, is known as Kallmann syndrome. GnRH ( ...
#61. Kallmann's syndrome and mental handicap.
... Kallmann's syndrome. Kallmann's syndrome, an uncommon disorder presenting as hypogonadotropic hypogonadism in combination with anosmia, is often associated ...
#62. Kallmann Syndrome Panel
Kallmann syndrome (KS), also known as hypogonadotropic hypogonadism, is a developmental genetic disorder affecting both sexes characterized ...
#63. 卡爾曼氏綜合症
卡爾曼綜合徵(Kallmann Syndrome,KS)是伴有嗅覺缺失或減退的低促性腺激素型性腺功能減退症。是一種具有臨床及遺傳異質性的疾病。KS可呈家族性或散發性,其遺傳方式有 ...
#64. Kallmann Syndrome Precision Panel - Italy
Kallmann Syndrome Precision Panel. Kallmann Syndrome (KS) is a rare genetic disorder that belongs to the spectrum of isolated hypogonadotropic hypogonadism.
#65. Pregnancy in women with Kallmann's syndrome
To induce of ovulation and pregnancy in women with Kallmann's syndrome. Design. Retrospective study. Patients. Three women with hypogonadotropic hypogonadism ...
#66. Full article: CHARGE syndrome and Kallmann syndrome
Kallmann syndrome (KS), a subtype of congenital hypogonadotropic hypogonadism in which patients also have a deficit in their sense of smell due ...
#67. Molecular diagnosis of Kallmann syndrome with diabetes ...
Figure 2 Kallmann syndrome pathogenic gene enrichment pathway and gene ontology, the x-axis represents gene ratio, and the y-axis represents ...
#68. Kallmann Syndrome deletion Xp22.3 by FISH* | Test Menu
Description. Kallmann syndrome is a clinically and genetically heterogeneous disorder, characterized by isolated hypogonadotropic hypogonadism and anosmia or ...
#69. kallmann syndrome & hypogonadotropic hypogonadism ...
KALLMANN SYNDROME & HYPOGONADOTROPIC HYPOGONADISM PATIENT SUPPORT GROUP LTD - Free company information from Companies House including registered office ...
#70. Kallmann Syndrome With Micropenis
Kallmann syndrome (congenital hypogonadotropic hypogonadism with anosmia) results from the failure of the gonadotropic releasing hormone (GnRH)-expressing ...
#71. Kallmann's syndrome
Kallmann's syndrome. Quick Reference. (kal-mănz). a familial condition that is ... Kallmann's syndrome. in Concise Medical Dictionary (8) Length: 78 words ...
#72. Kallmann Syndrome Due to Heterozygous Mutation in ...
Introduction: Kallmann syndrome (KS) is idiopathic hypogonadotropic hypogonadism with olfactory loss or decline. Waardenburg syndrome type ...
#73. Kallmanns syndrom
Kallmanns syndrom är en endokrin sjukdom som leder till brist på könshormoner. Den brukar därför oftast upptäckas när puberteten uteblir.
#74. Early or delayed puberty
a genetic condition, such as Klinefelter syndrome and Kallmann syndrome – read more about Kallmann syndrome on the MedlinePlus website. Tests and treatments ...
#75. Comparing Women and Men's Experiences with Kallmann ...
Topic: Kallmann syndrome (KS) is a congenital olfacto-genital disease. Affected persons show an absence of physical pubertal development, and their sense of ...
#76. Two females presenting primary amenorrhea diagnosed with ...
Kallmann syndrome (KS) is a rare inherited disease characterized by hypogonadotropic hypogonadism and anosmia. KS is uncommon in women and is an ...
#77. A case of Kallmann syndrome
Kallmann syndrome (KS), a rare genetic disorder, refers to the association between hypogonadotropic hypogonadism and anosmia or hyposmia due to abnormal ...
#78. Kallmann Syndrome and Hypogonadotropic Hypogonadism
... disorder may be more prevalent among PROKR2 mutation carriers than in the general ... Kallmann syndrome: mutations in the genes encoding prokineti- cin-2 and ...
#79. Kallmann Syndrome NGS Panel – full gene sequencing
Kallmann Syndrome NGS Panel – full gene sequencing. Requires patient informed consent. Code. GENE. Sample Reqs. AA [9]. Turnaround. 6 weeks.
#80. Kallmann syndrome - UChicago Genetic Testing
Kallmann syndrome. Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel · University of Chicago. Phone: 773.834.0555; Fax: 773.702.9130; Toll free: 888.824.
#81. Kallmann syndrome (KS) and Normosmic Idiopathic ...
Kallmann syndrome (KS) and Normosmic Idiopathic Hypogonadotropic Hypogonadism (nIHH): Pathogenesis and clinical findings. Post Views: 3,389. © 2023 - The ...
#82. IMSR Public Seminar: Kallmann syndrome and ciliopathy
IMSR Online Public Seminar with Dr Soo-Hyun Kim giving a talk about Kallmann syndrome and ciliopathy: An old problem and a new disease.
#83. Male hypogonadism - Symptoms & causes
Secondary hypogonadism · Kallmann's syndrome. This is an abnormal development of the area of the brain that controls the secretion of pituitary hormones ( ...
#84. Kallmann Syndrome with Syndactyly
INTRODUCTION. Kallmann syndrome (KS) is a rare genetic disorder marked by hypogonadotropic hypogonadism and anosmia. It occurs at a rate of 1 in 10,000 ...
#85. 卡爾門氏症kallmann's syndrome|疾病症狀與介紹
卡爾門氏症 kallmann's syndrome. 為一遺傳疾病,其特徵為嗅覺減退(hyposmia)、多變的中線缺失、唇裂或顎裂,以及由於低促性腺激素(GnRH)所造成的無性成熟。 相關 ...
#86. ANOS1 Gene - GeneCards | KALM Protein | KALM Antibody
Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell ...
#87. Genetics of Reproductive Disorders (Including Kallmann ...
Eligibility Eligibility Yes No Inclusion Criteria Inclusion Criteria Kallmann syndrome Yes for Kallmann syndrome inclusion criteria 3 No fo... precocious puberty Yes for precocious puberty inclusion criteria 8 No fo...
#88. A Case of Kallmann Syndrome Associated with Dandy-Walker ...
Kallmann syndrome (KS) is characterized by isolated hypogona- dotropic hypogonadism with hyposmia or anosmia (Kallmann et al., 1944; Naftolin, 1971).
#89. Case study: life with Kallmann Syndrome
Neil Smith, a biomedical scientist working in the blood transfusion service in East Surrey, has a rare condition called Kallmann Syndrome, also known as ...
#90. Oxford Desk Reference: Endocrinology - 第 253 頁 - Google 圖書結果
... (Kallmann syndrome), whilst the remaining have normosmic idiopathic hypogonadotrophic hypogonadism Genetic aetiology Mutations with the following types of ...
#91. Reversing Kallmann Syndrome: Testimonials for Hope. ...
Reversing Kallmann Syndrome: Testimonials for Hope. From Patients with Different Diseases Part 2 The Raw Vegan Plant-Based Detoxification & Regeneration ...
#92. Fertility management in Kallmann syndrome
Kallmann syndrome (KS) is a genetic disorder with an incidence of one per 50,000 women. It is associated with hypogonadotropic hypogonadism and anosmia ...
#93. Kallmann syndrome "warrior" - Rare Disease Day 2023
Kallmann syndrome is a condition that prevents puberty from starting or fully completing. It is also associated with having a lack of sense of smell. I was ...
#94. The Kallmann syndrome Handbook - Everything You Need ...
This book is your ultimate Kallmann syndrome resource. Here you will find the most up-to-date information, facts, quotes and much more. In easy to.
#95. (PDF) Kallmann syndrome in a female adolescent
PDF | The Kallmann syndrome is characterised by the association of hypogonadotropic hypogonadism and hypo/anosmia.
#96. Kallman syndrome versus idiopathic hypogonadotropic ...
Computed Tomography of the Anterior Skull Base in Kallmann Syndrome Reveals Specific Ethmoid Bone Abnormalities Associated With Olfactory Bulb ...
#97. What Is Kallmann Syndrome?
Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell. This disorder is a form of hypogonadotropic ...
kallmann syndrome 在 Kallmann syndrome - an Osmosis Preview - YouTube 的推薦與評價
Watch the full video, for free, here! https://osms.it/kallmann_syndrome What is Kallmann syndrome ? Kallmann syndrome is a genetic condition ... ... <看更多>