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Kallmann Syndrome Type 3



  • 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]
  • Prevalence of HH Several studies over the last few years have confirmed that HH is present in 25-40% of men with type 2 diabetes.[endocrineweb.com]
  • We report four patients with homozygous NEUROG3 mutations who presented with short stature and failed to show any signs of pubertal development.[ncbi.nlm.nih.gov]
  • Because the suppression of GnRH exists on a spectrum, so too does the clinical presentation.[clinicaladvisor.com]
  • […] and the mitral cells present in the olfactory bulb.[misc.medscape.com]
Skin Lesion
  • Keywords Hypogonadotropic hypogonadism; Microphallus; Kallmann syndrome Case Report A 27 year old white male presented to a family medicine clinic with complaint of a changing skin lesion that was a melanoma in situ.[omicsonline.org]
Increased Libido
  • Type 2 diabetics with hypogonadism who receive testosterone therapy have shown improved insulin sensitivity, decreased waist circumference, and increased libido.[endocrineweb.com]
  • I started having a chain of symptoms ,which came one after the other and are all present today, many of them gotten extremely worse and unbearable : -extreme fatigue - dry mouth , polyuria (about 6l per day) and nocturia – wake up to go to the toilet[allthingsmale.com]


  • […] in testosterone that occurs in the afternoon.[ 4-6 ] Screening for hypogonadism in the general population is not indicated.[ 4 ] Case finding in selected circumstances is, however, acceptable, such as when testing for low testosterone is part of the workup[bcmj.org]
  • This is also true in patients with an elevated prostate-specific antigen (PSA) 3 ng/mL, without further urologic workup. 7 Goals of Therapy Goals of treating hypogonadal patients are focused around improvement of those symptoms, many of which can be achieved[uspharmacist.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]
  • Electroencephalography This should be conducted as a part of the workup of patients with Kallmann syndrome and seizures. A detailed discussion of electroencephalography (EEG) findings in these patients is beyond the scope of this review.[misc.medscape.com]


  • In general, treatment options most require lifelong treatment but for the rare cases of reversal [ 5 ].[omicsonline.org]
  • It remains unclear whether there is an improvement in glycemic control or cardiovascular risk with treatment.[endocrineweb.com]
  • Treatment for female hypogonadism If you’re female, your treatment will involve increasing your amount of female sex hormones. Your first line of treatment will probably be estrogen therapy if you’ve had a hysterectomy.[healthline.com]
  • At the time of designation, several products were approved in the EU for the treatment of congenital hypogonadotropic hypogonadism or the associated infertility.[ema.europa.eu]


  • Treatment and prognosis Treatment is primarily aimed at restoring normal pubertal development and in some case normal fertility. The former can be achieved by administration of exogenous sex steroids, appropriate to the gender of the patient.[radiopaedia.org]
  • Prognosis and outcome The reversibility of FHA by CBT has been demonstrated in a pilot study only. The long-term impact of other interventions, such as hormone replacement therapies or antidepressants remains to be established.[clinicaladvisor.com]
  • Ovulation induction can be achieved either with pulsatile GnRH therapy or alternatively with gonadotropin injections (hCG, FSH, hMG) given at set intervals to trigger the maturation and release of the egg for natural conception. [37] Prognosis [ edit[en.wikipedia.org]
  • Short metacarpals and pes cavus Ichthyosis Cleft lip or palate References Prognosis Patients with Kallmann syndrome and those with idiopathic hypogonadotropic hypogonadism can survive for lengthy periods in the absence of associated life-threatening conditions[misc.medscape.com]


  • Causes [ edit ] There are a multitude of different etiologies of HH.[en.wikipedia.org]
  • If the patient has normal pubertal development and a uterus, the most common etiology is congenital outflow tract obstruction with a transverse vaginal septum or imperforate hymen.[aafp.org]
  • Our case reports suggest that maybe screening for hypogonadism in all HIV-infected men might help to understand its etiology.[edmcasereports.com]
  • Chapter First Online: 08 March 2017 Abstract Hypogonadotropic hypogonadism, regardless of its etiology, is one of the causes of male infertility which can benefit from medical treatment.[link.springer.com]


  • Epidemiology First, it is thought that androgens are extensively cleared in adipose tissue in obese patients. Furthermore, aromatization of androgens rises with increased levels of adipose tissue.[uspharmacist.com]
  • 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]
  • Epidemiologic studies have led to the division of febrile seizures into 3 groups, as follows: Simple febrile seizures Complex febrile seizures Symptomatic febrile seizures Children with simple febrile seizures are neurologically and developmentally healthy[centogene.com]
  • The epidemiology of polycystic ovary syndrome. Prevalence and associated disease risks. Endocrinol Metab Clin North Am. 1999;28:247–63. 23. Chang RJ, Katz SE. Diagnosis of polycystic ovarian syndrome.[aafp.org]
  • […] phenotype and prevalence of CCDC141 mutations in idiopathic hypogonadotropic hypogonadism/Kallmann syndrome confirmed that inactivating CCDC141 variants cause normosmic idiopathic hypogonadotropic hypogonadism but not Kallmann syndrome. [24] References Epidemiology[misc.medscape.com]
Sex distribution
Age distribution


  • 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]
  • "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]
  • This theory is questioned, however, when low androgen levels are observed in lean men with type 2 diabetes, demonstrating that hypogonadism in patients with diabetes may be independent of adiposity. 3 Pathophysiology Two categories of male hypogonadism[uspharmacist.com]
  • ., W.F. (1998) Gonadotropin-Releasing Hormone Deficienciesin the Human (Idiopathic Hypogonadotropin Hypogonadism and Kallman’s Syndrome) Pathophysiological and Genetic Considerations.[scirp.org]
  • Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann’s syndrome): pathophysiological and genetic considerations Endocr Rev 1998 ; 19 : 521-539 [cross-ref] [3] Young J, Vincent D, Bachelot A, Kottler[em-consulte.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]
  • […] accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 8 December 2016 recommending the granting of this designation. the seriousness of the condition; the existence of alternative methods of diagnosis, prevention[ema.europa.eu]
  • Patients with a known history of breast cancer should also avoid testosterone therapy to prevent risk of recurrence. 1,7,11 Erythrocytosis is a known adverse effect caused by excessive levels of testosterone; thus, a complete blood count (CBC) should[uspharmacist.com]
  • Induces secretory changes in endometrium and leads to withdrawal bleeding, which is essential for prevention of estrogen-induced endometrial hyperplasia.[misc.medscape.com]
  • Some people with KS/CHH will have their levels checked and may be prescribed extra vitamin D tablets or injections to try to prevent the condition getting worse.[en.wikipedia.org]

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