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]

Wolffian structures, such as the prostate, vasa deferentia, and epidydimides are present. In type I, abdominal testes are revealed on ultrasound; in type II testes may be descended or undescended. [en.wikipedia.org]

• Infertility

  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]

  […] luteinizing hormone subunit beta deficiency - Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare infertility [csbg.cnb.csic.es]

  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]

• Precocious Puberty

  Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism [mybiosource.com]

  Disease Type of connection Familial male-limited precocious puberty 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]

  Gonadotropin-Dependent Precocious Puberty This disorder, called central precocious puberty (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 precocious puberty [en.wikipedia.org]

  Disorders of Puberty Precocious Puberty Puberty in boys before age 9 is considered precocious. [gynecology.blogsky.com]

• Camping

  CAMP activates an enzyme (a protein kinase), which activates other proteins that produce the final 'effect' once secreted from the cell. Peptides don't directly alter gene expression, so the effects are generally short-term. [slideplayer.com]

• Anosmia

  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]

  […] sensory neuropathy, type IIC [AR] Spastic paraplegia 30 [AR] GeneReviews | OMIM® GeneReviews | OMIM® KIF7 Acrocallosal syndrome [AR] Joubert syndrome 12 [AR] GeneReviews | OMIM® GeneReviews | OMIM® KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia [genepeeks.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]

• Heart Disease

  disease GATA4 CENTOGENE is a global leader in the diagnosis of rare genetic diseases and has received multiple international accreditations (ISO/EN 15189, CAP and CLIA) that confirm the highest standards for diagnostic testing and reporting. [centogene.com]

  disease, 615542 (3);AD63%28GNRH1(O)Hypogonadotropic hypogonadism 12 with or without anosmia, 614841 (3)AR100%29GNRHR(O)Hypogonadotropic hypogonadism 7 without anosmia, 146110 (3)AR100%30HDAC8(O) Wilson-Turner syndrome, 309585 (3)X-LD100%31HESX1(O)Pituitary [nature.com]

  Since then, two large retrospective analyses of patient databases have reported higher frequency of cardiovascular events, including myocardial infarction, in older men with preexisting heart disease ( Fig. 411-7 ). [clinicalgate.com]

  NKX2-5 Atrial septal defect NKX2-5 Congenital heart disease, non-syndromic NKX2-5 Autism NLGN3 Mental retardation NLGN4X Autism NLGN4X Recurrent fever and amyloidosis NLRP3 CINCA syndrome NLRP3 Cryopyrin-associated periodic syndrome NLRP3 Muckle-Wells [springer.com]

• Night Blindness

  blindness, Oguchi type GRK1 Night blindness, congenital GRM6 Frontotemporal dementia GRN Autism and multiple exostoses GRPR Amyloidosis GSN Corneal dystrophy 2 GSN Glutathione synthetase deficiency GSS Trichothiodystrophy GTF2H5 Williams-Beuren syndrome [springer.com]

• Hearing Impairment

  […] loss WFS1 Optic atrophy, autosomal dominant, with hearing impairment WFS1 Sensorineural hearing loss WFS1 Spondyloepiphyseal dysplasia tarda and arthropathy WISP3 Pseudorheumatoid dysplasia, progressive WISP3 Pseudohypoaldosteronism 2 WNK1 Pseudohypoaldosteronism [springer.com]

• Hyperkeratosis

  […] anosmia, 610628 (3)AD75%60PROKR2(O)Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3)AD99%61PROP1(O)Pituitary hormone deficiency, combined, 2, 262600 (3)AR100%62PSMC3IP(O)Ovarian dysgenesis 3, 614324 (3)AR100%63RSPO1(O)Palmoplantar hyperkeratosis [nature.com]

  KRT1 Ichthyosis hystrix KRT1 Ichthyosis, with epidermolytic hyperkeratosis KRT1 Keratoderma, striate palmoplantar KRT1 Keratoderma, epidermolytic palmoplantar with tontubular keratin KRT1 Keratoderma, non-epidermolytic palmoplantar KRT1 Keratoderma, [springer.com]

• Flushing

  During this period when testosterone levels are low, the athletes may experience sexual dysfunction, hot flushes, fatigue, and depressed mood, causing some athletes to resume androgen use and thus perpetuating the cycle of abuse, withdrawal symptoms, [gynecology.blogsky.com]

• Sexual Dysfunction

  For further discussion of sexual dysfunction, 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, sexual dysfunction, and poor quality of life. [clinicalgate.com]

• Secondary Amenorrhea

  Female patients exhibit normal pubertal development and menarche, followed by oligomenorrhea and anovulatory secondary amenorrhea. [uniprot.org]

  amenorrhea FSHR Twinning, dizygotic FSHR Hypergonadotropic ovarian failure FSHR Hypergonadotropic hypogonadism FSHR Primary amenorrhea FSHR Glutamate formiminotransferase deficiency FTCD Iron overload FTH1 L-ferritin deficiency FTL Neuroferritinopathy [springer.com]

• Hot Flushes

  During this period when testosterone levels are low, the athletes may experience sexual dysfunction, hot flushes, fatigue, and depressed mood, causing some athletes to resume androgen use and thus perpetuating the cycle of abuse, withdrawal symptoms, [gynecology.blogsky.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: Treatment 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). [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]

Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare infertility - Rare urogenital disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

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]

Reproductive endocrinology: physiology, pathophysiology, and clinical management. 3rd ed. Philadelphia: W.B. Saunders, 1991:576-630. 26. Smyth CD, Miro F, Whitelaw PF, Howles CM, Hillier SG. [nejm.org]

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]