[…] 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]

• Infertility

  In: Hargreave TB (eds) Male infertility. [link.springer.com]

  FSHB, FSHR, GALT, GNRH1, GNRHR, KISS1R, HESX1, HFE, HS6ST1, HSD17B3, ANOS1, KISS1, AR, LEP, LEPR, LHB, LHCGR, LHX3, LMNA, MAP3K1, MKKS, NR0B1, NR3C1, NR5A1, PCSK1, ATRX, AXL, POR, PRLR, PROP1, BBS1, BBS2, BBS4, BBS5 Specificity 1 % Genes 100 % Male Infertility [mendelian.co]

  […] due to pituitary disorder Female infertility of pituitary origin Follicle stimulating hormone deficiency Fsh - follicle stimulating hormone deficiency Gonadotropin deficiency, isolated Growth hormone deficiency Growth hormone deficiency after bone marrow [icd10data.com]

  Untreated adult males usually have decreased bone density and muscle mass, decreased testicular volume (< 4 mL), erectile dysfunction, diminished libido and infertility. [orpha.net]

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

• Disability

  This may happen as a result of the 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 [octopart.com]

  Related symptoms: Intellectual disability Global developmental delay Generalized hypotonia Hearing impairment Hypertelorism SOURCES: UMLS OMIM More info about STANKIEWICZ-ISIDOR SYNDROME; STISS Low match ADRENAL HYPOPLASIA, CONGENITAL; AHC Congenital [mendelian.co]

  Laurence-Moon syndrome is characterized by obesity, intellectual disability, retinitis pigmentosa, and polydactyly. [merckmanuals.com]

  Safes Air conditioning/heating Ground-floor rooms Clothes iron Property On-site luggage storage Contacting the property Disability accessible Pool, spa & fitness facilities Cleaning/laundry services Elevator Prices of facilities & services Activities [booking.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. [healthofchildren.com]

• Weight Loss

  Notably, strenuous exercise, excessive weight loss, an eating disorder, or psychogenic stress is absent. Bonomi M, Libri DV, Guizzardi F, Guarducci E, Maiolo E, Pignatti E, et al. [emedicine.medscape.com]

  Associated anomalies include cleft palate, neurosensory hearing loss, congenital heart defect, intestinal malrotation, renal agenesis, hypertension, mental retardation, color blindness, and other defects. [icd10data.com]

• Fever

  Int J Androl 19:338–344 PubMed CrossRef Google Scholar Evenson DP, Jost LK, Corzett M, Balhorn R (2000) Characteristics of human sperm chromatin structure following an episode of influenza and high fever: a case study. [link.springer.com]

• Asymptomatic

  Although asymptomatic, patients have a greater fracture risk. Androgen or estrogen replacement therapy may prevent or ameliorate osteoporosis in men or women, respectively. [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

  In X-linked AHC, primary adrenocortical failure occurs because the adrenal glands lack the permanent adult cortical zone. [mendelian.co]

  Failure to thrive due to hypotonia and feeding difficulties during infancy usually resolves after age 6 to 12 mo. [merckmanuals.com]

• Visual Impairment

  Symptoms - Less than 30% cases Primary amenorrhea Azoospermia Prominent nose Absence of pubertal development Hypogonadism Pica Hypospadias Visual impairment Delayed puberty Feeding difficulties Hypertelorism Micrognathia Anemia Seizures Accelerated skeletal [mendelian.co]

• 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]

• Clumsiness

  As a result, they can appear to be awkward or clumsy. During their teenage years, males with XYY syndrome may develop severe acne that may need to be treated by a dermatologist. [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]

142015Phenotype-genotype correlation in children with neurofibromatosis type 1 C Barrea, S Vaessen, S Bulk, J Harvengt, JP Misson Neuropediatrics, 2018 72018ROHHAD (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]

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

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]

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]