Details of Disease

General Information of Disease (ID: DISYNM6Y)

• Disease Name: Hypogonadotropic hypogonadism 23 with or without anosmia
• Synonyms: HH23; hypogonadotropic hypogonadism 23 without anosmia; eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH); Pasqualini syndrome; 46,XY disorder of sex development due to LHB deficiency; hypogonadotropic hypogonadism caused by mutation in LHB; Leydig cell hypoplasia due to LHB deficiency; Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency; 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency; 46,XY DSD due to luteinizing hormone subunit beta deficiency; LHB hypogonadotropic hypogonadism; fertile eunuch syndrome; 46,XY DSD due to LHB deficiency
• Definition: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene.
• Disease Hierarchy:
  DIS9AZZT: Leydig cell hypoplasia
  DIS8JSKR: Hypogonadotropic hypogonadism
  DISYNM6Y: Hypogonadotropic hypogonadism 23 with or without anosmia
• Disease Identifiers:
  MONDO ID: MONDO_0009223
  MESH ID: C537919
  UMLS CUI: C0271582
  OMIM ID: 228300
  MedGen ID: 82881
  Orphanet ID: 325448
  SNOMED CT ID: 8829008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GNRH1	TT0ID4A	Strong	Biomarker	[1]
GNRHR	TT8R70G	Strong	Biomarker	[2]
KISS1	TTU2O6T	Strong	Biomarker	[3]
KISS1R	TT3KBZY	Strong	Biomarker	[4]
TACR3	TTBPGLU	Strong	Biomarker	[5]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CSHL1	OTQKU2F5	Strong	Biomarker	[6]
GHRH	OT94U6MO	Strong	Biomarker	[7]
LHB	OT5GBOVJ	Strong	Autosomal recessive	[8]

References

• [1] Sertoli cell androgen receptor DNA binding domain is essential for the completion of spermatogenesis.Endocrinology. 2009 Oct;150(10):4755-65. doi: 10.1210/en.2009-0416. Epub 2009 Jul 2.
• [2] A novel mouse model of hypogonadotrophic hypogonadism: N-ethyl-N-nitrosourea-induced gonadotropin-releasing hormone receptor gene mutation.Mol Endocrinol. 2005 Apr;19(4):972-81. doi: 10.1210/me.2004-0192. Epub 2004 Dec 29.
• [3] Hypogonadotropic hypogonadism in mice lacking a functional Kiss1 gene.Proc Natl Acad Sci U S A. 2007 Jun 19;104(25):10714-9. doi: 10.1073/pnas.0704114104. Epub 2007 Jun 11.
• [4] Kisspeptin signaling is indispensable for neurokinin B, but not glutamate, stimulation of gonadotropin secretion in mice.Endocrinology. 2012 Jan;153(1):316-28. doi: 10.1210/en.2011-1260. Epub 2011 Nov 8.
• [5] Uncovering novel reproductive defects in neurokinin B receptor null mice: closing the gap between mice and men.Endocrinology. 2012 Mar;153(3):1498-508. doi: 10.1210/en.2011-1949. Epub 2012 Jan 17.
• [6] A novel missense mutation in the mouse growth hormone gene causes semidominant dwarfism, hyperghrelinemia, and obesity.Endocrinology. 2004 May;145(5):2531-41. doi: 10.1210/en.2003-1125. Epub 2004 Jan 15.
• [7] GH, but not GHRH, plays a role in the development of experimental autoimmune encephalomyelitis.Endocrinology. 2011 Oct;152(10):3803-10. doi: 10.1210/en.2011-1317. Epub 2011 Aug 16.
• [8] Targeted disruption of luteinizing hormone beta-subunit leads to hypogonadism, defects in gonadal steroidogenesis, and infertility. Proc Natl Acad Sci U S A. 2004 Dec 7;101(49):17294-9. doi: 10.1073/pnas.0404743101. Epub 2004 Nov 29.