{"Name":"Isolated lutropin deficiency","DiseaseID__c":"GARD:0010127","id":10127,"encodedName":"isolated-lutropin-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Isolated lutropin deficiency","Xref_IDs__c":"8829008; C0271582; C537919; DOID:0090091; MEDGEN:82881; MONDO:0009223; OMIM:228300; ORPHA:325448","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009223","Disease_Description__c":"Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene.","GARD_Name__c":"Isolated lutropin deficiency","GARD_Synonym__c":"46,xy disorder of sex development due to lhb deficiency; 46,xy disorder of sex development due to luteinizing hormone subunit beta deficiency; 46,xy dsd due to lhb deficiency; 46,xy dsd due to luteinizing hormone subunit beta deficiency; fertile eunuch; fertile eunuch syndrome; hh23; hypogonadotropic hypogonadism 23 with or without anosmia; hypogonadotropic hypogonadism 23 without anosmia; hypogonadotropic hypogonadism caused by mutation in lhb; leydig cell hypoplasia due to lhb deficiency; leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency; lhb hypogonadotropic hypogonadism; pasqualini syndrome","Curated_Disease_Description_Source__c":"MONDO:0009223","Curated_Disease_Description__c":"Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:325448","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009223","ORPHANET_ID__c":"ORPHA:325448","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipoplasia de células de leydig por deficiencia de lhb","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hipoplasia de células de leydig por deficiencia de lhb","Spanish_GARD_Synonym__c":"hipoplasia de células de leydig por deficiencia de la subunidad beta de la hormona luteinizante; tds 46,xy por deficiencia de la subunidad beta de la hormona luteinizante; tds 46,xy por deficiencia de lhb; trastorno del desarrollo sexual 46,xy por deficiencia de la subunidad beta de la hormona luteinizante; trastorno del desarrollo sexual 46,xy por deficiencia de lhb","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene.","Curated_Disease_Description_Source__c":"MONDO:0009223","GARD_Synonym__c":"46,xy disorder of sex development due to lhb deficiency; 46,xy disorder of sex development due to luteinizing hormone subunit beta deficiency; 46,xy dsd due to lhb deficiency; 46,xy dsd due to luteinizing hormone subunit beta deficiency; fertile eunuch; fertile eunuch syndrome; hh23; hypogonadotropic hypogonadism 23 with or without anosmia; hypogonadotropic hypogonadism 23 without anosmia; hypogonadotropic hypogonadism caused by mutation in lhb; leydig cell hypoplasia due to lhb deficiency; leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency; lhb hypogonadotropic hypogonadism; pasqualini syndrome","Name":"Isolated lutropin deficiency","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0271582"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010127","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/228300","Source__c":"C0271582; MONDO:0009223; ORPHA:325448","Xref__c":"OMIM:228300"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537919","Source__c":"MONDO:0009223","Xref__c":"C537919"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=8829008","Source__c":"C0271582; MONDO:0009223","Xref__c":"8829008"},{"URL__c":"https://www.orpha.net/en/disease/detail/325448","Source__c":"C0271582; MONDO:0009223","Xref__c":"ORPHA:325448"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82881","Source__c":"C0271582","Xref__c":"MEDGEN:82881"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090091","Source__c":"MONDO:0009223","Xref__c":"DOID:0090091"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0271582","Source__c":"C0271582","Xref__c":"C0271582"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009223","Source__c":"GARD:0010127","Xref__c":"MONDO:0009223"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LHB","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:228300","Feature__r":{"HPO_Description__c":"Infrequent menses (less than 6 per year or more than 35 days between cycles).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000876","HPO_Synonym__c":"Light or infrequent menstrual periods","HPO_Name__c":"Oligomenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228300","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000869","HPO_Synonym__c":"Previous menstrual periods stop","HPO_Name__c":"Secondary amenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228300","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal development of large mammary glands in males resulting in breast enlargement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000771","HPO_Synonym__c":"Enlarged male breast; Gynaecomastia","HPO_Name__c":"Gynecomastia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228300","Feature__r":{"HPO_Description__c":"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000823","HPO_Synonym__c":"Delayed pubertal development; Delayed pubertal growth; Delayed puberty; Pubertal delay","HPO_Name__c":"Delayed puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228300","Feature__r":{"HPO_Description__c":"The presence of one or more cysts of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000138","HPO_Synonym__c":"Cystic abnormalities of the ovaries; Cystic ovaries; Ovarian cyst; Ovarian cystic abnormality","HPO_Name__c":"Ovarian cyst","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228300","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040171","HPO_Synonym__c":"Decreased serum testosterone level; Decreased serum testosterone levels; Low serum testosterone level; Low serum testosterone levels","HPO_Name__c":"Decreased serum testosterone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228300","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated concentration of follicle-stimulating hormone in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008232","HPO_Synonym__c":"Elevated follicle stimulating hormone; Elevated follicle-stimulating hormone; Elevated FSH level; Elevated plasma follicle stimulating hormone; Increased circulating follicle stimulating hormone level","HPO_Name__c":"Elevated circulating follicle stimulating hormone level","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228300","Feature__r":{"HPO_Description__c":"Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000054","HPO_Synonym__c":"Short penis; Small penis","HPO_Name__c":"Micropenis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228300","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced concentration of dihydrotestosterone in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033810","HPO_Name__c":"Decreased circulating dihydrotestosterone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228300","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010789","HPO_Name__c":"Abnormality of the Leydig cells","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228300","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the circulating level of luteinizing hormone (LH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030344","HPO_Synonym__c":"Decreased circulating luteinising hormone level","HPO_Name__c":"Decreased circulating luteinizing hormone level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228300","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000026","HPO_Synonym__c":"Decreased function of male gonad","HPO_Name__c":"Male hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228300","Feature__r":{"HPO_Description__c":"Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000044","HPO_Synonym__c":"Hypogonadotrophic hypogonadism; Low gonadotropins (secondary hypogonadism)","HPO_Name__c":"Hypogonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228300","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced number or density of axillary hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002215","HPO_Synonym__c":"Limited armpit hair; Little underarm hair; sparse to absent axillary hair","HPO_Name__c":"Sparse axillary hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228300","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced number or density of pubic hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002225","HPO_Synonym__c":"Decreased sexual hair; Sparse pubic hair; sparse to absent pubic hair","HPO_Name__c":"Sparse pubic hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228300","Feature__r":{"HPO_Description__c":"Insufficient amount of androgenic activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008226","HPO_Synonym__c":"Hypoandrogenism","HPO_Name__c":"Androgen insufficiency","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228300","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000027","HPO_Synonym__c":"Absent sperm in semen","HPO_Name__c":"Azoospermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228300","Feature__r":{"HPO_Description__c":"Incomplete maturation or aberrant formation of the male gametes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008669","HPO_Synonym__c":"Impaired spermatogenesis","HPO_Name__c":"Abnormal spermatogenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228300","Feature__r":{"HPO_Description__c":"The deposition of calcium phosphate microliths within the seminiferous tubules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012215","HPO_Name__c":"Testicular microlithiasis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Urologist"],"Account":["Infertility"]},"synonyms":["46,xy disorder of sex development due to lhb deficiency"," 46,xy disorder of sex development due to luteinizing hormone subunit beta deficiency"," 46,xy dsd due to lhb deficiency"," 46,xy dsd due to luteinizing hormone subunit beta deficiency"," fertile eunuch"," fertile eunuch syndrome"," hh23"," hypogonadotropic hypogonadism 23 with or without anosmia"," hypogonadotropic hypogonadism 23 without anosmia"," hypogonadotropic hypogonadism caused by mutation in lhb"," leydig cell hypoplasia due to lhb deficiency"," leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency"," lhb hypogonadotropic hypogonadism"," pasqualini syndrome"]}