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

This revised edition of Charles Brook's Handbook of Clinical Pediatric Endocrinology provides endocrinologists and pediatricians in training with a fully up-to-date clinical guide presenting evidence-based practice in the diagnosis, treatment, and management [books.google.com]

Symptoms and Signs Clinical presentation depends on whether, when, and how testosterone and sperm production are affected. (For presentation in adulthood, see Male Hypogonadism : Symptoms and Signs .) [merckmanuals.com]

Rare presentations include unilateral (occasionally bilateral and lethal at birth) renal agenesis, hearing impairment, cleft lip or palate, dental agenesis or bimanual synkinesis persisting beyond childhood. [orpha.net]

• Aspiration

  Stay up to date with expanded discussions of autoimmune thyroid diseases, mechanisms, and the appropriate treatment of the ophthalmopathy of Graves’ disease; a new section on the interpretation of fine needle aspiration results in patients with thyroid [books.google.com]

  Fertil Steril 62:606–617 PubMed Google Scholar Donovan DF, DiBaise M, Sparks AET, Kessler J, Sandlow JI (1998) Comparison of microscopic epididymal sperm aspiration and intracytoplasmic sperm injection/in-vitro fertilization with repeat microscopic reconstruction [link.springer.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 osteoporosis Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in heterozygous mutation in the FGF17 gene on chromosome 8p21 [malacards.org]

  […] distance Gynecomastia Abnormality of the voice Breast hypoplasia Osteoporosis Absence of secondary sex characteristics Impotence Congenital sensorineural hearing impairment Decreased serum testosterone level Sparse body hair Generalized joint laxity Osteopenia [mendelian.co]

  Features include emotional lability, poor gross motor skills, facial abnormalities (eg, a narrow bitemporal dimension, almond-shaped eyes, a mouth with thin upper lips and down-turned corners), and skeletal abnormalities (eg, scoliosis, kyphosis, osteopenia [merckmanuals.com]

• Cleft Lip and-or Palate

  Patients may also exhibit a variety of non-reproductive anomalies including craniofacial defects, such as cleft lip and/or palate and hypodontia, and eye defects, such as iris coloboma, ptosis, hypertelorism, and oculomotor palsy. [synapse.koreamed.org]

  Other features of KS may include a small penis or undescended testicles in males, kidney abnormalities, cleft lip and/or palate, clubfoot, hearing problems, and central nervous system problems such as synkinesia (the performance of an unintended movement [healthofchildren.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 revised edition of Charles Brook's Handbook of Clinical Pediatric Endocrinology provides endocrinologists and pediatricians in training with a fully up-to-date clinical guide presenting evidence-based practice in the diagnosis, treatment, and management [books.google.com]

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]

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]

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]

Prognosis - Kallmann syndrome - type 1 Treatment - Kallmann syndrome - type 1 Resources - Kallmann syndrome - type 1 [checkorphan.org]

2015142015Phenotype-genotype correlation in children with neurofibromatosis type 1 C Barrea, S Vaessen, S Bulk, J Harvengt, JP Misson Neuropediatrics, 201872018ROHHAD (NET) syndrome: systematic review of the clinical timeline and recommendations for diagnosis and prognosis [scholar.google.be]

PMID: 6377643 Prognosis Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J Nat Rev Endocrinol 2015 Sep;11(9):547-64. [ncbi.nlm.nih.gov]

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. [healthofchildren.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]

Osteoporosis MedGen UID: 776590 • Concept ID: C2911643 • Finding Etiology Int J Pediatr Otorhinolaryngol 2018 Jul;110:135-139. Epub 2018 May 17 doi: 10.1016/j.ijporl.2018.05.011. [ncbi.nlm.nih.gov]

Etiology is usually unknown. Sperm counts may be slightly low if one testis is undescended but are almost always very low if both are undescended. [merckmanuals.com]

Although these genes may be implicated in the etiology of approximately 50% of CHH/KS cases, the mutations in each of the genes account for less than 10% of such cases; furthermore, the majority of the underlying mechanisms have yet to be fully characterized [synapse.koreamed.org]

Relevant External Links for FGF17 Genetic Association Database (GAD) FGF17 Human Genome Epidemiology (HuGE) Navigator FGF17 Atlas of Genetics and Cytogenetics in Oncology and Haematology: FGF17 No data available for Genatlas for FGF17 Gene Structure and [genecards.org]

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

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]

J Androl 25:23–24 PubMed Google Scholar Dieckmann KP, Pichlmeier U (2004) Clinical epidemiology of testicular germ cell tumors. [link.springer.com]

[…] defects of the GnRH-receptor gene in Chinese patients with idiopathic hypogonadotropic hypogonadism and the severity of hypogonadism. ( 23155690 ) Fathi A.K....Luo X. 2012 44 Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological [malacards.org]

"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]

Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann''''s syndrome): pathophysiological and genetic considerations. Endocr Rev. 1998 Oct. 19(5):521-39. [Medline]. [Full Text]. [emedicine.medscape.com]

Arch Androl 32:37–43 PubMed CrossRef Google Scholar Eliasson R (1968) Biochemical analyses of human semen in the study of the physiology and pathophysiology of the male accessory genital glands. [link.springer.com]

This thoroughly updated edition includes an introduction to risk assessment and screening and results of recent clinical trials and their implications for treatment and prevention. [books.google.com]

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

Prevention - Kallmann syndrome - type 1 Diagnosis - Kallmann syndrome - type 1 Diagnostic methods consist of hormone evaluation, as well as evaluation of the sense of smell (olfactometry). [checkorphan.org]

[…] following: JavaScript may be disabled or not running on your browser Your browser may appear to be an automated tool that is not allowed on Octopart You are using a VPN to access Octopart An error (please contact us so we can correct it) What can I do to prevent [octopart.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]