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]

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]

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]

• Infertility

  Case Report An infertile couple presented with 5 years of primary infertility with male partner having azoospermia. The male partner was a 32-year-old businessman, nonsmoker, and nonalcoholic. [fertilityscienceresearch.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]

  HH may present as either congenital or acquired, but the majority of cases are of the former nature. [1] [2] Symptoms [ edit ] Examples of symptoms of hypogonadism include delayed, reduced, or absent puberty, low libido, and infertility. [en.wikipedia.org]

  In addition, we can estimate that nearly 50.0% of couples with infertility have an underlying genetic abnormality [ 1 ]. [content.sciendo.com]

  Language English Division of Urology, FCM - UNICAMP Clinical background: Twenty seven year-old male patient is referred to our infertility clinic. He has been married for 5 years with a 2 year infertility history. [fcm.unicamp.br]

• Surgical Procedure

  By the age of 3, he suffered 4 surgical procedures for bilateral cryptorchidism without improvement. Around the age of 8, dwarfism was recorded without further investigations. [umbalk.org]

• Developmental Delay

  Miya K, Shimojima K, Sugawara M, et al, 2012 A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features. Gene 506: 146-149. 9. [hormones.gr]

• Hyposmia

  Kallmann syndrome (KS) is a rare genetic disorder characterized by hypogonadotropic hypogonadism associated with anosmia or hyposmia. When anosmia is absent it is simply referred to as idiopathic hypogonadotropic hypogonadism (IHH). [radiopaedia.org]

  Isolated or apparently isolated forms (i.e., Kallmann syndrome with anosmia or hyposmia not spontaneously expressed by the patients) of these diseases are most of the time discovered during adolescence or in adulthood in reason of lacking, incomplete [em-consulte.com]

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

  HH may occur with anosmia/hyposmia (Kallmann Syndrome, KS), or without it (normosmic HH, nHH). [journals.plos.org]

  […] gonadotropins LH and FSH. [2] Hypogonadism due to low levels of testosterone in men or oestrogen / progesterone in women. [2] Infertility. [1] Non-reproductive features [ edit ] Total lack of sense of smell ( anosmia ) or markedly reduced sense of smell (hyposmia [en.wikipedia.org]

• Hearing Impairment

  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]

  Zoom Finally, the presence of non-reproductive non-olfactory additional disorders, including mirror movements, palate anomalies, renal agenesis (ultrasonography), hearing impairment (audiometric testing), and tooth agenesis, should be carefully searched [em-consulte.com]

  The latter are suggested to represent a mild end of CHARGE phenotypic spectrum due to overlapping features of these syndromes such as hypogonadism, anosmia, cleft lip and palate, hearing impairment, and semicircular canal hypoplasia [32], [33]. [journals.plos.org]

• Muscular Atrophy

  (more common with primary hypogonadism), muscular atrophy, osteoporotic fractures, and height loss.[ 4 ] As a comorbid condition, hypogonadism occurs with increased frequency among men with osteoporosis, osteoporotic fractures, type 2 diabetes, metabolic [bcmj.org]

• 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]

  As a rulethe penis remains infantile and the testes do not descend into the scrotum (cryptorchidism). No sexual development occurs at puberty. [medical-dictionary.thefreedictionary.com]

  By the age of 3, he suffered 4 surgical procedures for bilateral cryptorchidism without improvement. Around the age of 8, dwarfism was recorded without further investigations. [umbalk.org]

  Testes are often small or cryptorchid. Testosterone levels may be low with high gonadotropin levels. [msdmanuals.com]

• Primary Amenorrhea

  Table 4 3, 6, 15 includes the differential diagnosis of primary amenorrhea. [aafp.org]

  CHH is revealed in the majority of female teenagers and women by primary amenorrhea [ 1, 2, 3, 4, 5, 6 ]. [em-consulte.com]

  At age of 15 she had primary amenorrhea thus she was referred for an endocrine check-up. [umbalk.org]

  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]

  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]

[…] 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 [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]

• Testosterone Decreased

  The most frequently reported drug-related AEs were estradiol increased ( n = 3), blood testosterone increased ( n = 2), and blood testosterone decreased ( n = 2); there were no other AEs considered to be drug-related reported in more than one subject [rbej.biomedcentral.com]

• Hypercholesterolemia

  CVID2 ) TNFRSF6 ( Autoimmune lymphoproliferative syndrome 1A ) Lipid receptor LRP : LRP2 ( Donnai–Barrow syndrome ) LRP4 ( Cenani–Lenz syndactylism ) LRP5 ( Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1 ) LDLR ( LDLR Familial hypercholesterolemia [en.wikipedia.org]

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]

In general, treatment options most require lifelong treatment but for the rare cases of reversal [ 5 ]. [omicsonline.org]

Nonsurgical treatment of male infertility. Urol Clin North Am. 1994; 21 :531–548. [ PubMed ] [ Google Scholar ] 2. Hakim L, Oates RD. Nonsurgical treatment of male infertility: Specific therapy. In: Lipshulz LI, Howards SS, editors. [ncbi.nlm.nih.gov]

According to the study conducted by Carone et al, a therapy cycle is described as gonadotropin treatment for a maximum of 16 days and OI by a single administration of human chorionic gonadotropin (hCG) on the day after the last gonadotropin treatments [dovepress.com]

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]

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]

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]

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]

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]

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]

[ 1 ] Seminara, S.B., Hayes, F.J. and Crowley Jr., W.F. (1998) Gonadotropin-Releasing Hormone Deficienciesin the Human (Idiopathic Hypogonadotropin Hypogonadism and Kallman’s Syndrome) Pathophysiological and Genetic Considerations. [scirp.org]

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]