The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
For each presented case and phenotype, a full medical report will be produced including a tailored diagnostic strategy.[centogene.com]
Funding and Disclosures Presented at the annual meeting of the Society for Gynecologic Investigation, Chicago, March 15–18, 1995.[nejm.org]
[…] transcription of the LHCGR gene caused by a mutation in exon 6A leads to Leydig cell hypoplasia type II. ( 23232123 ) Kossack N....Gromoll J. 2013 7 Leydig cell hypoplasia due to inactivating luteinizing hormone/chorionic gonadotropin receptor gene mutation presenting[malacards.org]
A Severe hemophilia B Sex chromosome disorder of sex development Smith-Lemli-Opitz syndrome Sudden infant death-dysgenesis of the testes syndrome Symptomatic form of hemophilia A in female carriers Symptomatic form of hemophilia B in female carriers[se-atlas.de]
Testing for reproductive system Female infertility panel BMP15, CYP21A2, FSHR, LHB, LHCGR, TUBB8,... Global infertility panel AR, CATSPER1, CFTR, FSHB, FSHR, HESX1,...[centogene.com]
[…] full comprehension of Pasqualini syndrome allowed to reverse the hypoandrogenic phenotype and to restore fertility in these patients through the use of chorionic gonadotropin and the modern in-vitro fertility techniques Hypogonadism Delayed puberty and infertility[en.wikipedia.org]
Genetic females with these mutations have normal female external genitalia and normal female development during puberty, but may have amenorrhea (absent periods) and infertility. [5] Last updated: 2/12/2018[rarediseases.info.nih.gov]
Females with inactivating mutations in the LHCGR gene display a mild phenotype characterized by defective follicular development and ovulation, amenorrhea, and infertility (review by Themmen and Huhtaniemi, 2000).[ncbi.nlm.nih.gov]
Disease Type of connection Familial male-limited precociouspuberty Leydig cell hypoplasia due to complete LH resistance Leydig cell hypoplasia due to partial LH resistance Synonym(s): - 46,XY DSD due to LHB deficiency - 46,XY DSD due to luteinizing hormone[csbg.cnb.csic.es]
Mutations in this gene result in disorders of male secondary sexual character development, including familial male precociouspuberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precociouspuberty, and male pseudohermaphtoditism[mybiosource.com]
Gonadotropin-Dependent PrecociousPuberty This disorder, called central precociouspuberty (CPP), is less common in boys than in girls.[clinicalgate.com]
External links [ edit ] v t e Cell surface receptor deficiencies G protein-coupled receptor (including hormone ) Class A TSHR ( Congenital hypothyroidism 1 ) LHCGR ( Luteinizing hormone insensitivity, Leydig cell hypoplasia, Male-limited precociouspuberty[en.wikipedia.org]
Men with Klinefelter’s syndrome are at increased risk of systemic lupus erythematosus, Sjögren’s syndrome, breast cancer, diabetes mellitus, osteoporosis, non-Hodgkin’slymphoma, and lung cancer, and reduced risk of prostate cancer.[clinicalgate.com]
Men with Klinefelter syndrome are at increased risk of breast cancer, non-Hodgkin'slymphoma, and lung cancer, and reduced risk of prostate cancer. Periodic mammography for breast cancer surveillance is recommended for men with Klinefelter syndrome.[gynecology.blogsky.com]
lymphoma NFKBIA Ectodermal dysplasia, anhidrotic with immune deficiency NFKBIA Loss of pain perception NGF Myoclonic epilepsy of Lafora NHLRC1 Nance-Horan syndrome NHS Spastic paraplegia, autosomal dominant NIPA1 Cornelia de Lange syndrome NIPBL Tetralogy[springer.com]
Acquired Hypogonadotropic Disorders • SEVERE ILLNESS, STRESS, MALNUTRITION, AND EXERCISE These factors may cause reversible gonadotropin deficiency.[clinicalgate.com]
Acquired Hypogonadotropic Disorders Severe Illness, Stress, Malnutrition, and Exercise These may cause reversible gonadotropin deficiency.[gynecology.blogsky.com]
This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.[diseaseinfosearch.org]
Carrying a portable infusion device can be cumbersome, and follow-up of these patients requires physician supervision and laboratory monitoring.[gynecology.blogsky.com]
HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23 HH23 edit English hypogonadotropic hypogonadism 23 with or without anosmia A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene[wikidata.org]
), 233400 (3)AR100%37HSD3B2(O)3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3)AR99%38IL17RD(O)Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3)AD94%39KAL1(O)Hypogonadotropic hypogonadism 1 with or without anosmia[nature.com]
Manual annotation Automatic computational assertion Graphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS Keywords - Cellular component i Secreted Pathology & Biotech i Involvement in disease i Hypogonadotropic hypogonadism 23 without anosmia[uniprot.org]
Guttmacher syndrome HOXA13 Hand-foot-uterus syndrome HOXA13 Hydatidiform mole NLRP7 Hydatidiform mole, recurrent, type 2 KHDC3L Hypogonadotropic hypogonadism KISS1 Hypogonadotropic hypogonadism NSMF Hypogonadotropic hypogonadism type 6 with or without anosmia[centogene.com]
Table 340-2 Causes of Congenital Hypogonadotropic Hypogonadism Gene Locus Inheritance Associated Features KAL1 Xp22 X-linked Anosmia, renal agenesis, synkinesia, cleft lip/palate, oculomotor/visuospatial defects, gut malrotations NELF 9q34.3 AR Anosmia[gynecology.blogsky.com]
bodyhair, facial hair, and a deeper voice. [2] LCH is caused by mutations in the LHCGR gene and inheritance is autosomal recessive. [1] [2] There is no standard treatment for LCH.[rarediseases.info.nih.gov]
For further discussion of sexualdysfunction, disorders of the prostate, and testicular cancer, see Chaps. 49, 91, 92, respectively.[gynecology.blogsky.com]
Androgen deprivation therapy in men with prostate cancer has been associated with increased risk of bone fractures, diabetes mellitus, cardiovascular events, fatigue, sexualdysfunction, and poor quality of life.[clinicalgate.com]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
[…] of specialists often work together to identify treatment options for a person with LCH.[rarediseases.info.nih.gov]
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
Male Factor Infertility: TreatmentTreatment options for male factor infertility have expanded greatly in recent years. Secondary hypogonadism is highly amenable to treatment with pulsatile GnRH or gonadotropins (see below).[gynecology.blogsky.com]
TREATMENT MALE FACTOR INFERTILITY Treatment options for male factor infertility have expanded greatly in recent years. Secondary hypogonadism is highly amenable to treatment with pulsatile GnRH or gonadotropins (see below).[clinicalgate.com]
Roughly 10% of infertility cases have a genetic etiology. Known genetic causes of infertility include chromosomal aberrations, single gene variants and phenotypes with multifactorial inheritance 3 .[centogene.com]
Despite extensive evaluation, the etiology is established in fewer than one-half of patients. FIGURE 411-5 Evaluation of gynecomastia. E 2 , 17β-estradiol; hCGβ, human chorionic gonadotropin β; T, testosterone.[clinicalgate.com]
In spite of extensive evaluation, the etiology is established in fewer than one-half of patients. Gynecomastia: Treatment When the primary cause can be identified and corrected, breast enlargement usually subsides over several months.[gynecology.blogsky.com]
In epidemiologic surveys, low total and bioavailable testosterone concentrations have been associated with decreased appendicular skeletal muscle mass and strength, decreased self-reported physical function, higher visceral fat mass, insulin resistance[clinicalgate.com]
In epidemiologic studies, testosterone concentrations are inversely related to waist-to-hip ratio and directly correlated with HDL cholesterol levels.[gynecology.blogsky.com]
The pathophysiology of reproductive dysfunction during acute illness is unknown but likely involves a combination of cytokine and/or glucocorticoid effects.[clinicalgate.com]
Leydig cell hypoplasia is an autosomal recessive disorder in which loss of function of the LHCGR gene in the male prevents normal sexual development. Two types of LCH have been defined (Toledo, 1992).[ncbi.nlm.nih.gov]
Leydig cell agenesis Leydig Cell Hypoplasia Get Update Overview Leydig cell hypoplasia is an autosomal recessive disorder in which loss of function of the LHCGR gene in the male prevents normal sexual development.[diseaseinfosearch.org]
Report of the Meeting on the Prevention of Infertility at the Primary Health Care Level. WHO, Geneva; 1983. WHO/MCH/1984.4. Boivin J, Bunting L, Collins JA, & Nygren KG (2007).[centogene.com]
This mutation eliminates the last five cysteine residues in the FSH β-subunit and prevents production of FSH in vitro.[nejm.org]
Mutations in the CYP19 gene, which encodes aromatase, prevent testosterone conversion to estradiol.[clinicalgate.com]