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]

They also present with delayed or incomplete puberty. [hormones.gr]

• 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]

• Febrile Seizures

  […] e generalized epilepsy with febrile seizures plus [GEFS+] (ADGRV1, CPA6, GABRD, GABRG2, SCN1A, SCN1B, SCN9A, STX1B)Pan143Craneosinostosis ligado al FGFR y su diagnóstico diferencial [incl. síndrome de Pfeiffer, síndrome de Apert, síndrome de Crouzon, [bredagenetics.com]

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]