hypogonadotropic hypogonadism 23 with or without anosmia

Summary
Synonym
  • 46,XY DSD due to LHB deficiency
  • 46,XY DSD due to luteinizing hormone subunit beta deficiency
  • 46,XY disorder of sex development due to LHB deficiency
  • 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency
  • Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency
  • Pasqualini syndrome
  • fertile eunuch syndrome
  • leydig cell hypoplasia due to LHB deficiency
Definition
A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13.
Super Class
autosomal recessive disease hypogonadotropic hypogonadism
External Links
Disease Ontology
DOID:0090091
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying all 10 entries
Gene ID Gene Symbol Description Source
1109 AKR1C4 aldo-keto reductase family 1 member C4
1583 CYP11A1 cytochrome P450 family 11 subfamily A member 1
1586 CYP17A1 cytochrome P450 family 17 subfamily A member 1
1646 AKR1C2 aldo-keto reductase family 1 member C2
3284 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
3293 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3
6716 SRD5A2 steroid 5 alpha-reductase 2
9469 CHST3 carbohydrate sulfotransferase 3
51478 HSD17B7 hydroxysteroid 17-beta dehydrogenase 7
79154 DHRS11 dehydrogenase/reductase 11

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Last updated: August 19, 2024