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Kallmann Syndrome Type 4

HH4


Presentation

  • 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]
  • Other hormones or imaging tests may be needed according to the cause and clinical presentation.[journals.lww.com]
Delayed Dentition
  • Other names for 4H syndrome: Ataxia, Hypodontia and Hypomyelination (AHH) Ataxia, delayed dentition and Hypomyelination (ADD) Pol III – related Leukodystrophy[leukodystrophyresourceresearch.org]
  • Other names for 4H syndrome Ataxia, hypodontia and hypomyelination (AHH) Ataxia, delayed dentition and hypomyelination (ADDH)[ulf.org]
Eruptions
Short Arm
  • Homozygosity whole-genome mapping allowed the localization of a new locus within the short arm of chromosome 19 (19p13).[pnas.org]
Abnormal Eye Movement
  • He had a normal sense of smell and showed no abnormal eye movements, no color blindness, and no renal or craniofacial abnormalities. Three brothers had similar clinical features.[pnas.org]
  • These include a failure of one kidney to develop (unilateral renal agenesis), abnormalities of bones in the fingers or toes, a cleft lip with or without an opening in the roof of the mouth ( a cleft palate ), abnormal eye movements, hearing loss, and[ghr.nlm.nih.gov]
Increased Libido
  • Type 2 diabetics with hypogonadism who receive testosterone therapy have shown improved insulin sensitivity, decreased waist circumference, and increased libido.[endocrineweb.com]
Dyspareunia
  • Gonadotrophin deficiency: Women: oligomenorrhoea, loss of libido, dyspareunia, infertility, osteoporosis.[patient.info]
Ataxia
  • Neurological symptoms include: Late walking Early-onset ataxia (problems with balance and fine motor skills) Deterioration of ataxia with infections with complete or partial recovery Slow progression of ataxia over time Dysarthria (speech is difficult[leukodystrophyresourceresearch.org]
  • Conclusions: Albeit defined clinically by the combination of spinocerebellar ataxia, chorioretinal degeneration and hypogonadotropic hypogonadism, BNS varies substantially in disease onset, clinical presentation and progression.[neurology.org]
  • The onset of ataxia was similar to her older sibs.[jmg.bmj.com]
  • Other names for 4H syndrome Ataxia, hypodontia and hypomyelination (AHH) Ataxia, delayed dentition and hypomyelination (ADDH)[ulf.org]
  • […] pituitary gland Approximate Synonyms Abnormal prolactin Anterior pituitary disorder Anterior pituitary hormone deficiency Atypical ichthyosis vulgaris with hypogonadism Decreased hormone secretion Disorder of anterior pituitary Early onset cerebellar ataxia[icd9data.com]
Cerebellar Ataxia
  • Both our two index patients and the previously published cases propose that the clinical presentation of BNS is variable regarding disease severity, age (range 1-40y) and clinical symptoms (cerebellar ataxia 38[percnt]; vision loss 36[percnt]; delayed[neurology.org]
  • ataxia with hypogonadism Female hypogonadotropic hypogonadism Female infertility due to pituitary disorder Female infertility of pituitary origin Follicle stimulating hormone deficiency FSH - follicle stimulating hormone deficiency Gonadotroph hyperplasia[icd9data.com]
Dysarthria
  • Neurological symptoms include: Late walking Early-onset ataxia (problems with balance and fine motor skills) Deterioration of ataxia with infections with complete or partial recovery Slow progression of ataxia over time Dysarthria (speech is difficult[leukodystrophyresourceresearch.org]
Involuntary Movements
  • They include microphallus (up to 65%), cryptorchidism (up to 73%), hearing loss ( 30%), renal agenesis, synkinesis (the involuntary movement of one hand when the other is moved or mirror movement), cleft lip with or without palate (13–14%), dental agenesis[clinicaladvisor.com]

Workup

  • […] 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]
Trophoblastic Cells
  • Metastin is also believed to control the migration of trophoblast cells ( 29 ). However, it is unknown whether these features are relevant to the mechanisms leading to IHH in our patients.[pnas.org]

Treatment

  • Reversal of hypogonadism may occur in some patients receiving gonadotropins; thus short periods of interruption of treatment are advised.[journals.lww.com]
  • It remains unclear whether there is an improvement in glycemic control or cardiovascular risk with treatment.[endocrineweb.com]
  • Treatments for: There is no cure for 4H syndrome; treatment is supportive.[leukodystrophyresourceresearch.org]
  • 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]
  • 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]

Prognosis

  • 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 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]
  • 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]

Etiology

  • 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]
  • 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]

Epidemiology

  • 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]
  • 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]
  • […] 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]
Sex distribution
Age distribution

Pathophysiology

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

Prevention

  • 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]

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