Results 61 to 70 of about 2,707 (125)

Similar interstitial deletions of the KAL-1 gene in two Brazilian families with X-linked Kallmann Syndrome

Genetics and Molecular Biology, 2004
Mutations in the KAL-1 gene localized at Xp22.3 have been shown to be responsible for the X-linked Kallmann syndrome (KS), a disorder characterized by the association of hypogonadotropic hypogonadism and anosmia.
Ericka Barbosa Trarbach, Isabella Lopes Monlleo, Carlos Guilherme Gaelzer Porciuncula, Marshall Italo Barros Fontes, Maria Teresa Mathias Baptista, Christine Hackel   +5 more
doaj   +1 more source

A RARE ENDOCRINE CASE REPORT OF KALLMANN SYNDROME

Journal of University Medical & Dental College, 2017
: Kallmann syndrome is a rare disorder of secondary hypogonadism with or without anosmia/ hyposmia due to abnormal migration of gonadotrophin releasing hormone producing neurons in hypothalamus.
Nasir Mahmood
doaj  

Genetic Polymorphisms of Prokineticins and Prokineticin Receptors Associated with Human Disease

Life
Prokineticins (PKs) are low molecular weight proteins that exert their effects by binding to two seven-transmembrane G-protein-coupled receptors (prokineticin receptors, PKRs).
Roberta Lattanzi, Rossella Miele
doaj   +1 more source

Hypogonadotropic Hypogonadism Revisited

Clinics, 2013
Impaired testicular function, i.e., hypogonadism, can result from a primary testicular disorder (hypergonadotropic) or occur secondary to hypothalamic-pituitary dysfunction (hypogonadotropic).
Renato Fraietta, Daniel Suslik Zylberstejn, Sandro C. Esteves   +2 more
doaj  

KAL1基因突变的KS患者临床分析（附2例报告）

Zhongguo shiyan zhenduanxue, 2011
Kallmann综合征（Kallmann Syndrome,KS）又称促性腺激素分泌不足的性腺功能减退伴嗅觉丧失症,是一种先天性的遗传病。早期发现并及时给予激素替代治疗可使患者恢复性腺功能,部分患者可恢复生育力。本院在2008年收治两例KS患者,经KAL1基因分子筛查分析发现两例患者KAL1基因均有异常,现就两例KAL1基因突变的KS患者的临床表现及治疗进行报道如下。
李志, 马超, 云馨, 李学付, 刘睿智, 高久春   +5 more
doaj  

Delayed Puberty, Eroticism, and Sense of Smell, a Psychological Study of Economic and Social Consequences (Kallmann’s Syndrome): A Rare Case Report

Biomolecular and Health Science Journal
Kallmann syndrome is defined as the association of hypogonadotropic hypogonadism and anosmia or hyposmia caused by abnormal migration of olfactory axons and neurons producing gonadotropin-releasing hormone.
Azlansyah Azlansyah, Cennikon Pakpahan, Hermansyah Hermansyah, Faisal Yusuf Ashari, Gustavo Santos Rainato, Kenley Nathanael, Maxwell Salvador Surya Atmaja   +6 more
doaj   +1 more source

Olfactory Agenesis in Kallmann Syndrome (KS) [PDF]

Journal of Clinical and Diagnostic Research, 2015
Sahana Shetty, Nitin Kapoor, Reetu Amritha John, Thomas Vizhalil Paul   +3 more
doaj   +1 more source

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

Radiol Case Rep, 2023
Hilman S, Dewi DK, Kartika E.
europepmc   +1 more source

Kallmann Syndrome in a 30-Year-Old Female With Primary Infertility: A Case Report. [PDF]

Case Rep Obstet Gynecol
Soryadharma A, Ritonga MA, Permadi W.
europepmc   +1 more source

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.
europepmc   +1 more source