Thus, a thorough assessment for ophthalmological, neurological and endocrinological changes in patients presenting with one of the key features is recommended. [neurology.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]

Hypodontia means that not all teeth are present. Inheritance: 4H syndrome is inherited in an autosomal recessive manner. This means that parents are healthy, but each carries one defective copy of the responsible gene. [leukodystrophyresourceresearch.org]

Residues of the 3′ end of intron 4 present in both individuals are underlined. Sequencing of GPR54 Gene. Candidate genes present in the region of interest and potentially involved in reproduction, signaling, and development were sequenced. [pnas.org]

Presentation [ edit ] Congenital hypogonadotropic hypogonadism presents as hypogonadism, e.g., reduced or absent puberty, [1] low libido, infertility, etc. due to an impaired release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing [en.wikipedia.org]

• Hyposmia

  In addition to hypogonadotropic hypogonadism and anosmia/hyposmia, KS may have a variety of associated anomalies. [clinicaladvisor.com]

  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]

  This genetic condition is classically divided into two groups based on the presence of anosmia/hyposmia (Kallmann Syndrome) or the absence of olfactory disturbances (normosmic isolated hypogonadotropic hypogonadism). [2] Typically, diagnosis of the congenital [ijdvl.com]

  Any signs of eunuchoidal properties along with either anosmia or hyposmia should confirm the diagnosis of KS. [synapse.koreamed.org]

  In Kallmann syndrome, the sense of smell is either diminished (hyposmia) or completely absent (anosmia). This feature distinguishes Kallmann syndrome from most other forms of hypogonadotropic hypogonadism, which do not affect the sense of smell. [ghr.nlm.nih.gov]

• Heart Disease

  In the interim, a significantly hypogonadal man who has heart disease or is at risk for heart disease should not be refused testosterone therapy on the basis of cardiovascular risk. [bcmj.org]

  Does age at natural menopause affect mortality from ischemic heart disease?. J Clin Epidemiol. 1997;50:475–9. 32. Kim TJ, Anasti JN, Flack MR, Kimzey LM, Defensor RA, Nelson LM. [aafp.org]

  Patients with Kallmann syndrome and those with idiopathic hypogonadotropic hypogonadism survive long term if they do not have associated conditions such as congenital heart disease or neurologic manifestations. [emedicine.medscape.com]

  Lpa is a strong independent risk factor for premature coronary heart disease ( 22 ). Surgical orchidectomy for prostate cancer increases Lpa concentrations, whereas administration of testosterone in healthy men reduces Lpa levels ( 23 ). [care.diabetesjournals.org]

• Fracture

  On the basis of antiresorptive therapy, no further fractures occurred within several years. Recently, recurrent nontraumatic fractures without bone healing were observed. [link.springer.com]

  […] needed to assess whether fracture rates are lower in osteoporotic hypogonadal men treated with testosterone. [bcmj.org]

  What percentage of osteoporosis-related fractures occur in men? 10% 20% 50% 70% 14. [pharmacytimes.com]

  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]

  Depression, fatigue, low energy, poor concentration, mild anemia and low bone mineral density with osteoporotic fractures may also occur ( 2, 3, 6, 7, 8, 9, 10 ). [edmcasereports.com]

• 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]

  Additionally, neurological symptoms, such as bimanual synkinesis, corpus callosum agenesis, and hearing impairments, and/or medical conditions, such as unilateral renal aplasia, may also be present [ 48 ]. [synapse.koreamed.org]

  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]

• Primary Amenorrhea

  Amenorrhea Definition The absence of menstrual periods is called amenorrhea. Primary amenorrhea is the failure to start having a period by the age of 16. [medical-dictionary.thefreedictionary.com]

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

  Figure 4: Linear basement membrane zone band is seen on the epidermal side ('roof') of the split Click here to view The patient also complained of primary amenorrhea. [ijdvl.com]

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

  amenorrhea and hypertension [15]. [wikigenes.org]

[…] 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]

Screening for Low Testosterone: A Diagnostic Workup The initial best screening test for the diagnosis of hypogonadism is an early morning serum total testosterone level. If it is < 300 ng/dL, the patient should be considered hypogonadal. [pharmacytimes.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]

• Testosterone Decreased

  As testosterone decreases, some men may experience symptoms similar to those of menopause in women. [mayoclinic.org]

  Older patients with lung cancer, diabetes, cardiovascular disease, or prostate disease also showed a marked decrease in testosterone levels. 39 These decreased testosterone levels can lead to hypogonadism. [pharmacytimes.com]

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]

Due to a limited sample size, despite trends, the FSH pre-treatment (followed by GnRH) was not statistically superior to GnRH-only treatment in either TV, maximal sperm count or time to sperm in the ejaculate. [em-consulte.com]

Testosterone treatment may be acceptable in men with screen-detected organ-specific prostate cancer after definitive or clinically adequate prostate treatment. † Testosterone treatment only transiently worsens severity of obstructive sleep apnoea; this [mja.com.au]

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]

This treatment induced a tripling of penile length and a 4-fold increase in testes volume. The other hormonal treatment that is classically used in infants with CHH is depot esters of testosterone [ 9 ]. [ijpeonline.biomedcentral.com]

Prognosis Although an increased mortality rate in hypopituitary patients is well documented, the actual cause of the increased mortality is not clear. If relevant hormones are adequately replaced, prognosis in hypopituitarism is good. [patient.info]

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 Prolonged amenorrhea can lead to infertility and other medical problems such as osteoporosis (thinning of the bones). [medical-dictionary.thefreedictionary.com]

Discussion The prognosis of inducing ovulation in patients of HH is favorable though they require high doses of hMG. The baseline FSH and LH values do not predict an individual patient's response to hMG. [fertilityscienceresearch.org]

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]

Of all the causes of infertility, HH is the least common etiology. [fertilityscienceresearch.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]

This confirms a prior study of prepubertal men with gonadotropin deficiency (of diverse etiologies) also pre-treated with variable rFSH regimens before adding hCG [ 14 ]. [em-consulte.com]

If levels of sex steroids, FSH, or LH are not clearly decreased, further studies based on family history to identify gene mutations may help determine the etiology of the patient’s clinical symptoms.(Table 1) Table 1. [clinicaladvisor.com]

Epidemiology Taken from the results of one study [ 1 ] : The incidence of hypopituitarism is estimated to be 4·2 per 100,000 per year. The prevalence of hypopituitarism is estimated to be 29-45 per 100,000. [patient.info]

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]

[…] described the 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] Epidemiology [emedicine.medscape.com]

Key words: Brucellosis; Pneumonia; Hypogonadism Advertisement Journal of Molecular Pathophysiology SUBMIT YOUR ARTICLE NOW [scopemed.org]

Kallmann syndrome caused by mutations in the PROK2 and PROKR2 genes: pathophysiology and genotype-phenotype correlations. Front Horm Res 2010;39:121–32. Crossref PubMed Google Scholar 22. Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, et al. [degruyter.com]

These data underscore the clinical, genetic, and pathophysiological heterogeneity that exists in this syndrome. Delayed Puberty. Delayed puberty is frequently reported in the family members of patients with CIHH (41). [78stepshealth.us]

[…] 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]

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]

Similarly, taking exogenous estrogenic compounds may also increase the level of estradiol and prevent the correct diagnosis. Reference ranges vary with age and sexual developmental stages of the child. [clinicaladvisor.com]

Prevention Good obstetric care has reduced the incidence of postpartum hypopituitarism. Radiation therapy that minimises exposure to the pituitary gland reduces incidence and time of onset of hypopituitarism. [patient.info]

Prevention Primary amenorrhea caused by a congenital condition cannot be prevented. In general, however, women should maintain a healthy diet, with plenty of exercise, rest, and not too much stress, avoiding smoking and substance abuse. [medical-dictionary.thefreedictionary.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]

Bisphosphonates for the prevention of fractures in osteogenesis imperfecta: meta-analysis of placebo-controlled trials. J Bone Miner Res. 2015;30:929–33. PubMed CrossRef Google Scholar 12. [link.springer.com]