’s presentation : The current baseline now is to inject in FCC at 3.3 TEV from the LHC. [indico.cern.ch]

Etiology The aetiology is unknown but the combination of developmental anomalies present in patients with this syndrome is suggestive of an embryological defect in the formation of the neuroectodermal derivatives of cephalic neural crest. [orpha.net]

[…] and the mitral cells present in the olfactory bulb. [emedicine.medscape.com]

In this report, we offer a brief overview of the diagnosis and management of IHH and present the case of a 27 year old male with undiagnosed IHH. [omicsonline.org]

• Infertility

  Urologe A 50: 38–46 PubMed CrossRef Google Scholar Dohle GR, Colpi GM, Hargreave TB, Papp GK, Jungwirth A, Weidner W, The EAU Working Group on Male Infertility (2005) EAU guidelines on male infertility. [doi.org]

  (PMID: 1191677) Sairam MR … Li CH (Biochimica et biophysica acta 1975) 2 3 4 60 Luteinizing hormone beta-subunit gene (LHbeta) polymorphism in infertility and endometriosis-associated infertility. [genecards.org]

  This case highlights the value of obtaining a detailed history and performing a thorough physical examination as this patient’s risk of cancer, fractures, and infertility could have been dramatically reduced with an earlier diagnosis. [omicsonline.org]

  This may result in infertility due to inadequate sperm production. The actual incidence of infertility in males with XYY syndrome is unknown. [encyclopedia.com]

  Liu PY, Baker HW, Jayadev V et al (2009) Induction of spermatogenesis and fertility during gonadotropin treatment of gonadotropin-deficient infertile men: predictors of fertility outcome. [link.springer.com]

• Disability

  Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [lettersforcecilia.com]

  Of these, VCX3A is linked with intellectual disability. Tests on blood samples from his parents revealed that the deletion was inherited from his mother, although she had no symptoms of either disease. [edmcasereports.com]

  Turner's syndrome does not affect intelligence, although persons with the condition have poor spatial perception and mathematical aptitude, often accompanied by learning disabilities. [encyclopedia.com]

  […] idiopathic hypogonadotropic hypogonadism include abnormal eye movements (including gaze-evoked horizontal nystagmus, abnormal pursuit, and saccades), synkinesia (mirror movements of the opposite upper extremity), paraplegia, cerebellar ataxia, and learning disability [emedicine.medscape.com]

• Epilepsy

  E-2018 115 Viral Infections of the Nervous System E-2041 116 Fungal Rickettsial and Parasitic Diseases of the Nervous System E-2075 117 Neurologic Complications of Immunization E-2132 118 Paraneoplastic Neurologic Syndromes E-2142 119 ImmuneMediated Epilepsy [books.google.com]

  Color blindness, sensorineural deafness, paraplegia, or epilepsy These occur in a minority of patients with Kallmann syndrome. [emedicine.medscape.com]

  Additionally, congenital heart defects, urogenital defects, epilepsy and behavioral problems are frequently observed. Note=The disease is caused by mutations affecting the gene represented in this entry (PubMed:16826528). [lettersforcecilia.com]

  ADAM9, AIPL1, BEST1, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, CRX, GUCA1A, GUCY2D, KCNV2, PDE6C, PDE6H, PITPNM3, PROM1, PRPH2, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, UNC119)Pan184Convulsiones febriles e generalized epilepsy [bredagenetics.com]

• Fatigue

  All patients with Kallmann syndrome have either anosmia or severe hyposmia and may exhibit symptoms of associated conditions including those of congenital heart disease (eg, fatigue, dyspnea, cyanosis, palpitations, syncope) or neurologic manifestations [emedicine.medscape.com]

  Delayed pubertal development; Anosmia (reduced sense of smell); Reduced muscle mass and strength; Reduced bone density; Changes to body hair and skin; Anaemia ; Energy loss; Fatigue. [myvmc.com]

• Weakness

  […] and neuravidin with very high affinity Molar mass: 244.31 g/mol Formula: C 10 H 16 N 2 O 3 S Applications: Western blot, immunohistochemistry, and ELISA Biotin Datasheet HRP (Horseradish peroxidase) Properties: Enzymatic activity is used to amplify weak [stressmarq.com]

• Anosmia

  17 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism 20 with or without anosmia [familydiagnosis.com]

  Anosmia, is also known as hh19. [malacards.org]

  SNP ID Clin Chr 12 pos Variation AA Info Type rs139318648 risk-factor, Hypogonadotropic hypogonadism 19 with or without anosmia, Hypogonadotropic hypogonadism 19 with or without anosmia (HH19) [MIM:615269] 89,350,881(-) G/A/C coding_sequence_variant, [genecards.org]

  233400 (3)AR100%37HSD3B2(O)3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3)AR99%38IL17RD(O)Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3)AD94%39KAL1(O)Hypogonadotropic hypogonadism 1 with or without anosmia [nature.com]

  In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. [uniprot.org]

• Hyposmia

  Disease definition Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. [orpha.net]

  Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. [malacards.org]

  All patients with Kallmann syndrome by definition have anosmia or severe hyposmia. [emedicine.medscape.com]

• Dyspnea

  All patients with Kallmann syndrome have either anosmia or severe hyposmia and may exhibit symptoms of associated conditions including those of congenital heart disease (eg, fatigue, dyspnea, cyanosis, palpitations, syncope) or neurologic manifestations [emedicine.medscape.com]

• Failure to Thrive

  Presentation may include abdominal/loin pain, urinary tract infections, hematuria, enlargement of one or more cysts, failure to thrive, short stature, hypertension or renal dysfunction. [centogene.com]

• Dental Caries

  Clinical description Other variable features include a congenital heart defect, facial asymmetry, intellectual deficit, cleft palate, choanal stenosis and an increased tendency for dental caries. [orpha.net]

• Hearing Impairment

  Affiliated tissues include pituitary and olfactory bulb, and related phenotypes are osteopenia and hearing impairment Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in heterozygous mutation in the DUSP6 gene on chromosome [malacards.org]

  For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see 147950. http://www.omim.org/entry/615271 Hearing impairment MedGen UID: 5453 • Concept ID [ncbi.nlm.nih.gov]

  Checking sense of smell using odorant panel or University of Pennsylvania Smell Identification Test (UPSIT) Checking for hearing impairment. Checking for missing teeth or presence of cleft lip and/or cleft palate. [en.wikipedia.org]

  Associated phenotypic features include cleft lip/palate, hearing impairment, dental agenesis, limb anomalies, renal agenesis, and mirror movements [ 6 ]. [ojrd.biomedcentral.com]

• Osteoporosis

  Osteoporosis is a common result of hypogonadism. Osteoporosis in men has been shown to increase both morbidity and mortality. [omicsonline.org]

  Osteopenia MedGen UID: 148180 • Concept ID: C0747078 • Disease or Syndrome Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. [ncbi.nlm.nih.gov]

  […] risk of developing secondary osteoporosis or osteopenia. [en.wikipedia.org]

  Hypogonadotropic hypogonadism can lead to osteoporosis, metabolic syndrome and infertility ( 3 ). [edmcasereports.com]

  hypophosphatemic, type 1 SLC34A1 Nephrolithiasis/osteoporosis, hypophosphatemic, type 2 SLC9A3R1 Nephronophthisis type 1 NPHP1 Nephronophthisis type 2 INVS Nephronophthisis type 3 NPHP3 Nephronophthisis type 4 NPHP4 Nephronophthisis type 7 GLIS2 Nephronophthisis [centogene.com]

• Osteopenia

  Osteopenia MedGen UID: 148180 • Concept ID: C0747078 • Disease or Syndrome Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. [ncbi.nlm.nih.gov]

  Affiliated tissues include pituitary and olfactory bulb, and related phenotypes are osteopenia and hearing impairment Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in heterozygous mutation in the DUSP6 gene on chromosome [malacards.org]

  An abdominal CT and DEXA scan revealed undescended testes and osteopenia, respectively. He was diagnosed as IHH. The patient was provided with supplementary vitamin D, calcium and referrals to endocrinology and urology for orchiopexy. [omicsonline.org]

  Bone density scan ( DXA ) to check for osteoporosis or osteopenia. [3] [2] Treatment [ edit ] Testosterone gel sachets, Testosterone undecanoate injection (Nebido), Human chorionic gonadotropin (hCG) injection, Menotropin injection (hMG). [en.wikipedia.org]

• Muscular Atrophy

  The third proband also had cup-shaped ears and upper body muscular atrophy; unfortunately, MRI scan was not available. However, none of these 3 probands had mutations in CHD7. [ojrd.biomedcentral.com]

• Ataxia

  Extended cardiology focus with over 50 colour images Catchy mnemonics to aid recall 5 new long cases, including hypopituitarism, neurofibromatosis type 1 and Rett syndrome 8 new short cases, including lymphadenopathy, ataxia and nystagmus Tips on body [books.google.com]

  Pseudohypoparathyroidism, type ic; php1c P63092 #605074 Renal cell carcinoma, papillary, 1; rccp1 P08581 #275210 Restrictive dermopathy, lethal P02545 #609579 Scaphocephaly, maxillary retrusion, and mental retardation P21802 #183090 Spinocerebellar ataxia [genome.jp]

  […] espinocerebelosa, basic – SCA tipos 1, 2, 3, 6, 7, 17 ( ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, TBP)Ataxia espinocerebelosa, basic plus – SCA tipos 1, 2, 3, 6, 7, 8, 10, 12, 17, 36 (ATXN1, ATXN2, ATXN3, ATXN7,ATXN8, ATXN8OS, CACNA1A, NOP56, PPP2R2B, TBP [bredagenetics.com]

  Familial hypogonadotropic eunuchoidism with cerebellar ataxia. J. Clin. Endocrinol. Metab. 23: 107, 1963. PubMed CrossRef Google Scholar 24. Moebius P.J. Ueber engeborene doppelseitige abducens-facialis-laehmung. Munch. Med. [link.springer.com]

  Manifestations that become evident during childhood include anosmia or hyposmia, unilateral renal agenesis, synkinesia, ataxia, visual symptoms, hearing loss, dental agenesis, scoliosis, kyphosis, excessive joint mobility, short fourth metacarpal bones [edmcasereports.com]

• Cerebellar Ataxia

  Familial hypogonadotropic eunuchoidism with cerebellar ataxia. J. Clin. Endocrinol. Metab. 23: 107, 1963. PubMed CrossRef Google Scholar 24. Moebius P.J. Ueber engeborene doppelseitige abducens-facialis-laehmung. Munch. Med. [link.springer.com]

  ataxia, and learning disability (secondary to mental retardation). [emedicine.medscape.com]

• Headache

  If a brain tumor is present (central hypogonadism) there may be headaches or visual loss or symptoms of other hormonal deficiencies (such as hypothyroidism ). [encyclopedia.com]

• Cryptorchidism

  Cryptorchidism is associated with an increased risk of testicular cancers. This risk nearly doubles when cryptorchidism is bilateral. Orchiopexy will reduce, but not eliminate the risk for cancer. [omicsonline.org]

  Differences in testicular development between 5alpha-reductase 2 deficiency and isolated bilateral cryptorchidism. J Urol 2008; 180: 1116-20. [Figure 1] [Table 1] [ajandrology.com]

  These mutations are associated with low blood levels of gonadotropin and sex steroid levels throughout life and with a high incidence of microphallus, cryptorchidism and small testes, which can be observed during the neonatal period. [edmcasereports.com]

  Males with hypogonadotropic hypogonadism are often born with an unusually small penis (micropenis) and undescended testes (cryptorchidism). They also present with delayed or incomplete puberty. [hormones.gr]

• Amenorrhea

  Amenorrhea Primary amenorrhea develops in the vast majority of women with classic Kallmann syndrome or idiopathic hypogonadotropic hypogonadism. [emedicine.medscape.com]

  Female patients exhibit normal pubertal development and menarche, followed by oligomenorrhea and anovulatory secondary amenorrhea. {ECO:0000269 PubMed:1727547}. Note=The disease is caused by mutations affecting the gene represented in this entry. [genecards.org]

  Affected females usually present with primary amenorrhea and do not have a completed secondary sexual development, such as having little or no breast development. 3,4 KS and other syndromes causing a congenital deficiency of gonadotropin-releasing hormone [hormones.gr]

  Males exhibit a lack of muscular development and failure of the voice to deepen, whereas females typically exhibit minimal to a complete lack of breast development coupled with primary amenorrhea. [omicsonline.org]

  Caronia LM, Martin C, Welt CK et al (2011) A genetic basis for functional hypothalamic amenorrhea. N Engl J Med. 364:215–225 Google Scholar 8. [link.springer.com]

• Sexual Dysfunction

  In males the usual complaints are sexual dysfunction, decreased beard and body hair, breast enlargement, and muscle loss. [encyclopedia.com]

  Osteoporosis, increased risk of testicular cancer secondary to cryptorchidism, sexual dysfunction, and infertility are just a few of the sequelae associated with IHH. When diagnosed early, these co morbidities can be reduced or even eliminated. [omicsonline.org]

Diagnosis [ edit ] Diagnosing KS and other forms of CHH is complicated by the difficulties in distinguishing between a normal constitutional delay of puberty or a case of KS/CHH. [27] [4] [28] The diagnosis is often one of exclusion found during the workup [en.wikipedia.org]

This site does not provide medical or any other health care advice, diagnosis or treatment. [shantioc.org]

It is only normally discovered when testicular volume increases while on testosterone treatment alone and testosterone levels return to normal when treatment is stopped. [en.wikipedia.org]

Treatments Used in This Disease: Testosterone Replacement Therapy in Men Drugs/Products Used in the Treatment of This Disease: Reandron ( Testosterone undecanoate ) Testogel ( Testosterone ) [myvmc.com]

DUSP6 regulation of p53 phosphorylation via ATM, could be a therapeutic target for combination with treatments involving activation of the ATM/p53 pathway. [esmoopen.bmj.com]

Patients typically require lifelong treatment and special attention to complications such as osteoporosis, infertility and type 2 diabetes mellitus ( 3 ). [edmcasereports.com]

Finally in silico studies from Gene Expression Omnibus and The Cancer Genome Atlas databases indicates that those NSCLC patients with low expression of DUSP6 are those with the worst prognosis. [cancerres.aacrjournals.org]

Prognosis Many forms of hypogonadism are potentially treatable and have a good prognosis. Prevention People should maintain normal body weight and have healthy eating habits to prevent anorexia nervosa. Other causes may not be preventable. [encyclopedia.com]

Early detection of the disease can significantly improve prognosis. [centogene.com]

PMID: 9829214 Prognosis Manara R, Di Nardo F, Salvalaggio A, Sinisi AA, Bonanni G, Palumbo V, Cantone E, Brunetti A, Di Salle F, D'errico A, Elefante A, Esposito F Hum Brain Mapp 2018 Jan;39(1):42-53. Epub 2017 Sep 30 doi: 10.1002/hbm.23806. [ncbi.nlm.nih.gov]

Etiology The aetiology is unknown but the combination of developmental anomalies present in patients with this syndrome is suggestive of an embryological defect in the formation of the neuroectodermal derivatives of cephalic neural crest. [orpha.net]

J Clin Endocrinol Metab 92: 10–25 CrossRef PubMed Google Scholar Brito VN, Latronico AC, Arnhold IJ et al. (2008) Update on the etiology, diagnosis and therapeutic management of sexual precocity. [springerlink.com]

Osteoporosis MedGen UID: 776590 • Concept ID: C2911643 • Finding Etiology Manara R, Di Nardo F, Salvalaggio A, Sinisi AA, Bonanni G, Palumbo V, Cantone E, Brunetti A, Di Salle F, D'errico A, Elefante A, Esposito F Hum Brain Mapp 2018 Jan;39(1):42-53. [ncbi.nlm.nih.gov]

[…] been used to describe this group of conditions as it highlights the primary cause of these conditions and distinguishes them from other conditions such as Klinefelter syndrome or Turner syndrome which share some similar symptoms but have a different etiology [en.wikipedia.org]

Summary Epidemiology So far, less than 30 cases have been described in the literature. [orpha.net]

Dtsch Arztebl Int 106: 377–382 PubMedCentral PubMed Google Scholar Gravholt CH (2004) Epidemiological, endocrine and metabolic features in Turner syndrome. [springerlink.com]

[…] fertile eunuchoidism,hypogonadotropic hypogonadism,male infantilism,male infertility in heterozygotes but normal sexual development and fertility in female heterozygotes Relevant External Links for LHB Genetic Association Database (GAD) LHB Human Genome Epidemiology [genecards.org]

Reversal is not always permanent and the precise genetic causes are not yet fully understood. [39] Epidemiology [ edit ] The epidemiology of Kallmann syndrome is not well understood. [en.wikipedia.org]

Methods Herein, we investigated epidemiological, clinical, and genetic features of KS in Finland. [ojrd.biomedcentral.com]

References Seminara S B, Hayes F J, Crowley Jr W F (1998) Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropichypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations. [omicsonline.org]

Seminara SB, Hayes FJ, Crowley WF Jr (1998) Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann’s syndrome): pathophysiological and genetic considerations. [link.springer.com]

N Engl J Med 358: 709–715 CrossRef PubMedCentral PubMed Google Scholar Themmen APN, Huhtaniemi IT (2000) Mutations of gonadotropins and gonadotropin receptors: Elucidating the physiology and pathophysiology of pituitary-gonadal function. [springerlink.com]

"Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism: Background, Pathophysiology, Epidemiology". eMedicine. ^ a b Balasubramanian R, Crowley WF (March 2, 2017). "Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency". GeneReviews. [en.wikipedia.org]

A review of Kallmann syndrome: genetics, pathophysiology, and clinical management. Obstet Gynecol Surv. 2008; 63:189–194. PMID: 18279545. [ CrossRef ] [ Google Scholar ] 51. Segal TY, Mehta A, Anazodo A, Hindmarsh PC, Dattani MT. [e-sciencecentral.org]

As current methods to prevent GvHD systemically suppress the immune system, therapies that... Read the full 378 word article Trial Subscription Get a 4-week free trial subscription to BioCentury Extra [biocentury.com]

Prevention People should maintain normal body weight and have healthy eating habits to prevent anorexia nervosa. Other causes may not be preventable. [encyclopedia.com]

This helps avoid repeated freeze-thaw cycles, as well as prevent loss of virus. To maintain accurate titer, aliquot in at least 20ul per tube. [vectorbiolabs.com]

More information Testosterone Deficiency (Primary Hypogonadism and Secondary/Hypogonadotrophic Hypogonadism) Prevention In some cases, hypogonadism is caused by genetic factors and cannot be prevented. [myvmc.com]

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]