Results Four male patients in the third decade of life presented with the clinical and laboratory profile of HH (Table 1) combined with anosmia confirmed by the semiological test. [dovepress.com]

In conclusion, the present mutation represents the first mutation in KAL1, the gene responsible for X-linked KS, in a patient presenting reversible KS. [eje.bioscientifica.com]

These problems are more often present in those without Kallmann syndrome. Males present with delayed puberty and may have micropenis (although congenital micropenis is not present in the majority of male KS cases). [wikidoc.org]

You will be able to get a quick price and instant permission to reuse the content in many different ways. movement disorders (other than parkinsons) neuroendocrinology Description A man aged 20 years presented with complaints of small penile size and [casereports.bmj.com]

Clinical History A 19-year-old male patient presented at the endocrinology department with pubertal delay. He had no previous clinical history. On physical examination, hypogonadal phenotype was observed. [eurorad.org]

• Developmental Disorder

  Congenital Hypogonadotropic Hypogonadism (CHH) is a developmental disorder caused by gonadotropin-releasing hormone (GnRH) deficiency leading to a lack of production of sex hormones (testosterone in males and oestrogens in females). [endo-ern.eu]

  Loss-of-function mutations in the KAL1 gene are responsible for Kallmann syndrome, a developmental disorder characterized by the association of hypogonadotropic hypogonadism and anosmia (14,18,19). [spandidos-publications.com]

  The developmental disorder leading to the absence (or hypoplasia) of the olfactory bulbs and tracts, and to anosmia in KS is not completely understood. [nature.com]

• Fishing

  If the FISH result is normal, a chromosome analysis allows identification of more complex abnormalities. [mplnet.com]

  Product summary Technology FISH Application Cytogenetics & rare disease Areas of interest Constitutional Region Xp22.31 /Xp11.1-q11.1 Label Product No. LPU 016 (10 tests) LPU 016-S (5 tests) Intended use In vitro diagnostic. [ogt.com]

  Similar WAP- and FnIII-encoding domains occur in predicted KAL proteins in birds, fish, flies, and worms. [humpath.com]

• Swelling

  Delayed growth Causes * Nasal and sinus disease –Most common cause of anosmia –Allergic or vasomotor rhinitis and sinusitis result in temporary anosmia: Associated with chronic nasal congestion, rhinorrhea, postnasal drip, pale/boggy nasal mucosa, sinus swelling [checkorphan.org]

  Male diseases Testicular torsion Patients of testicular torsion usually present with following:[8] Sudden onset of severe pain in one testicle, with or without a previous predisposing event Swelling on one side of the scrotum (scrotal swelling) Nausea [wikidoc.org]

• Myxedema

  Topical Endocrinology 22. (15-20) v • d • e Endocrine pathology: endocrine diseases (E00-35, 240-259) Thyroid Hypothyroidism (Iodine deficiency, Cretinism, Congenital hypothyroidism, Goitre, Myxedema) - Hyperthyroidism (Graves disease, Toxic multinodular [bionity.com]

• Rhinitis

  […] smell * Reduced hormone production by testes * Reduced hormone production by ovaries * Progressive loss of vision * Delayed puberty * Small genitalia * Delayed growth Causes * Nasal and sinus disease –Most common cause of anosmia –Allergic or vasomotor rhinitis [checkorphan.org]

• Nasal Congestion

  –Most common cause of anosmia –Allergic or vasomotor rhinitis and sinusitis result in temporary anosmia: Associated with chronic nasal congestion, rhinorrhea, postnasal drip, pale/boggy nasal mucosa, sinus swelling/tenderness, and headaches –Intranasal [checkorphan.org]

• Postnasal Drip

  drip, pale/boggy nasal mucosa, sinus swelling/tenderness, and headaches –Intranasal polyposis may occur, resulting in obstruction of nasal passages with temporary anosmia * Head/facial trauma –Second most common cause of anosmia –Permanent anosmia may [checkorphan.org]

• Rhinorrhea

  […] boggy nasal mucosa, sinus swelling/tenderness, and headaches –Intranasal polyposis may occur, resulting in obstruction of nasal passages with temporary anosmia * Head/facial trauma –Second most common cause of anosmia –Permanent anosmia may result –CNS rhinorrhea [checkorphan.org]

• Short Arm

  The KAL1 gene is located on the short arm of the X chromosome. A mutation in this gene causes a deficiency in the gonadotropin-releasing hormone. References John H, Schmid C. (2000). Kallmann’s syndrome: clues to clinical diagnosis. [mplnet.com]

  The gene encoding this protein maps to the distal short arm of chromosome X, which escapes X-chromosome inactivation and has the highest ratio of chromosomal deletions among all genetic disorders10. [ogt.com]

  Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci U S A 1989;86:10001–5 22. Franco B, Guioli S, Pragliola A, et al.. [nejm.org]

  Petit C, Levilliers J and Weissenbach J (1990) Long-range restriction map of the terminal part of the short arm of the human X chromosome. Proc Natl Acad Sci USA 80:3680-3684. [scielo.br]

  Article CAS Google Scholar Ballabio A, Andria G : Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses. Hum Mol Genet 1992; 1: 221–227. [nature.com]

• Progressive Loss of Vision

  Symptoms * Reduced sense of smell * Absent sense of smell * Reduced hormone production by testes * Reduced hormone production by ovaries * Progressive loss of vision * Delayed puberty * Small genitalia * Delayed growth Causes * Nasal and sinus disease [checkorphan.org]

• Anxiety Disorder

  (e.g., Alzheimer's disease, Parkinson's disease, anxiety disorders) * Neoplasms (e.g., nasal cavity, brain) * Endocrine disorders (e.g., diabetes mellitus, hypothyroidism, adrenal insufficiency) * Congenital disorders (e.g., Kallman's and Turner's syndromes [checkorphan.org]

• Headache

  […] and sinus disease –Most common cause of anosmia –Allergic or vasomotor rhinitis and sinusitis result in temporary anosmia: Associated with chronic nasal congestion, rhinorrhea, postnasal drip, pale/boggy nasal mucosa, sinus swelling/tenderness, and headaches [checkorphan.org]

  Twenty-three healthy male subjects (mean age, 32.6 years; range: 12–55 years) or patients referred to neuroimaging for headache with no history of prematurity, head trauma, neurologic or psychiatric disease, or neurosurgery represented our control group [ajnr.org]

Diagnosis The diagnosis is often one of exclusion found during the workup of delayed puberty. The presence of anosmia together with micropenis in boys should suggest Kallmann syndrome (although micropenis alone may have other causes). [bionity.com]

(e.g., nasal cavity, brain) * Endocrine disorders (e.g., diabetes mellitus, hypothyroidism, adrenal insufficiency) * Congenital disorders (e.g., Kallman's and Turner's syndromes) * Sjögren's syndrome * Vitamin deficiencies (e.g., vitamin B12, zinc) Treatment [checkorphan.org]

Subsequently, gonadotropin treatment is generally required for fertility induction in both sexes and achieving pregnancy. [endo-ern.eu]

If not enough of these hormones are made, the child will not enter puberty and will not be able to have children of their own without special treatment. [rch.org.au]

There is currently no treatment for anosmia. Prognosis KS is not a life threatening disease. With hormonal treatment, pubertal feminization or virilization occurs in all patients. [orpha.net]

Treatment The standard treatment for Kallmann syndrome is replacing the deficient hormones to induce puberty and normalize the hormone levels. [news-medical.net]

Prognosis KS is not a life threatening disease. With hormonal treatment, pubertal feminization or virilization occurs in all patients. Fertility, when desired, is achieved in most cases but cryptorchidism has a poor prognosis in males. [orpha.net]

In addition, periodical interruption of testosterone replacement and reassessment of gonadal function in KS patients may be desirable in order to avoid unnecessary hormone replacement and inappropriate reproductive prognosis. [eje.bioscientifica.com]

View Article : Google Scholar : PubMed/NCBI 39 Piao J and Liu S, Xu Y, Wang C, Lin Z, Qin Y and Liu S: Ezrin protein overexpression predicts the poor prognosis of pancreatic ductal adenocarcinomas. Exp Mol Pathol. 98:1–6. 2014. [spandidos-publications.com]

[…] fertility in a vast majority of affected individuals.75 It is still unknown whether transient hormone replacement therapy in affected male infants to simulate the postnatal surge in gonadotropins could have later impact on their sexual life and reproductive prognosis [nature.com]

Etiology KS is caused by impaired development of the olfactory system and disrupted embryonic migration of the GnRH-synthesizing neurons from the olfactory epithelium to the hypothalamic region of the brain. [orpha.net]

By contrast, our second patient consulted a doctor at 18 years of age, but the etiology of primary amenorrhea was not investigated at the time, and was simply treated as a symptom. [elsevier.es]

Allowable Qualifiers: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology [decs.bvsalud.org]

Several genetic variants have been linked to the etiology of KS with hearing loss, including KAL1, FGFR1, FGF8, IL17RD, and CHD77,8,9,10. Recently, variants in SOX10 have been identified in a few KS patients with hearing loss11. [nature.com]

[…] incidence is 1:8,000 in males and 1:40,000 in females.2,3 Hereditary cases have been well documented but sporadic cases are more common, which suggests that de novo mutations are an important cause.4–6 There are at least six well-known genes involved in the etiology [dovepress.com]

"Kallmann Syndrome Epidemiology". News-Medical. https://www.news-medical.net/health/Kallmann-Syndrome-Epidemiology.aspx. (accessed December 05, 2022). Harvard Smith, Yolanda. 2019. Kallmann Syndrome Epidemiology. [news-medical.net]

Epidemiology Kallmann syndrome occurs at a rate of 1 in 10,000 male births and 1 in 50,000 female births. It may be inherited as an X-linked condition, an autosomal dominant condition or as an autosomal recessive condition. [bionity.com]

Summary Epidemiology The prevalence is estimated at 1/8,000 males and 1/40,000 females, but is probably underestimated. [orpha.net]

Allowable Qualifiers: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET [decs.bvsalud.org]

From the pathophysiological viewpoint, it is explained by a defect in the migration of GnRH-secreting fetal neurons from the olfactory placode (where they originate) to the medial basal hypothalamus, where they represent the GnRH pulse generator. [elsevier.es]

Pathophysiology Under normal conditions, GnRH travels from the hypothalamus to the pituitary gland via the hypophyseal portal system, where it triggers production and release of gonadotropins (LH and FSH) from the gonadotropes. [bionity.com]

Pathophysiology of Kallmann syndrome consists of anormal migration of cells which produces luteinising hormone releasing factor (LHRH) from the olfactory plate to the hypothalamus [3]. [eurorad.org]

Expert=478 http://www.medlink.com/article/kallmann_syndrome http://www.nature.com/ejhg/journal/v17/n2/full/ejhg2008206a.html Further Reading All Kallmann Syndrome Content Kallmann Syndrome Kallmann Syndrome Signs and Symptoms Kallmann Syndrome Pathophysiology [news-medical.net]

The GnRH releasing neurons are in the brain but are not connected to the hypothalamus preventing GnRH release. [chuv.ch]

Because insulin resistance is an important risk factor for cardiovascular disease as well as type 2 diabetes, it is important to investigate this relationship for the implications it may have for prevention of and therapeutic interventions for these disorders [clinicaltrials.gov]

Improvement Performance Measures Perioperative Care and Consultation Pharmacoeconomics Pharmacoepidemiology Pharmacogenetics Pharmacy and Clinical Pharmacology Physical Medicine and Rehabilitation Physical Therapy Physician Leadership Poetry Population Health Preventive [jamanetwork.com]

In the first case, late diagnosis was due to a psychosocial and cultural component which had previously prevented the patient from consulting a specialist. [elsevier.es]

Misplacement of GnRH-producing neurons in the brain prevents the production of other sex hormones, which interferes with normal sexual development and causes the characteristic features of hypogonadotropic hypogonadism. [medlineplus.gov]