KEGG   DISEASE: Fertile eunuch syndrome
Entry
H01973                      Disease                                

Name
Fertile eunuch syndrome;
Hypogonadotropic hypogonadism-23 without anosmia (HH23)
  Supergrp
Hypogonadotropic hypogonadism [DS:H00255]
Hypopituitarism [DS:H01700]
Male hypogonadism [DS:H02027]
Description
Fertile eunuch syndrome is a form of idiopathic hypogonadotropic hypogonadism in males. It is characterized by eunuchoid features associated with normal or low-normal sized testes, presence of active spermatogenesis despite the absence or scarcity of Leydig cells, and androgenic response (clinical or chemical or both) to administered human chorionic gonadotropin. In this disease, the levels of testosterone and follicle-stimulating hormone (FSH) are inadequate to induce spermatogenesis and the development of secondary sexual characteristics. Mutations in the beta subunit of luteinizing hormone gene have been identified from patients of this disease.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of genital organs
   H01973  Fertile eunuch syndrome
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the pituitary hormone system
    5A61  Hypofunction or certain specified disorders of pituitary gland
     H01973  Fertile eunuch syndrome
Pathway
hsa04913  Ovarian steroidogenesis
hsa04917  Prolactin signaling pathway
Gene
LHB [HSA:3972] [KO:K08521]
Other DBs
ICD-11: 5A61.0
ICD-10: Q56.1
OMIM: 228300
Reference
  Authors
MCCULLAGH EP, BECK JC, SCHAFFENBURG CA
  Title
A syndrome of eunuchoidism with spermatogenesis, normal urinary FSH and low or normal ICSH: (fertile eunuchs).
  Journal
J Clin Endocrinol Metab 13:489-509 (1953)
DOI:10.1210/jcem-13-5-489
Reference
  Authors
PASQUALINI RQ
  Title
Hypoandrogenic syndrome with normal spermatogenesis.
  Journal
J Clin Endocrinol Metab 13:128-9 (1953)
DOI:10.1210/jcem-13-1-128
Reference
  Authors
Ozcan KS, Osmonov D, Altay S, Gungor B, Eren M
  Title
Fertile eunuch syndrome in association with biventricular noncompaction, bicuspid aortic valve, severe aortic stenosis, and talipes equinovarus.
  Journal
Tex Heart Inst J 40:204-6 (2013)
Reference
PMID:883676
  Authors
Makler A, Glezerman M, Lunenfeld B
  Title
The fertile eunuch syndrome. An isolated leydig-cell failure?
  Journal
Andrologia 9:163-70 (1977)
DOI:10.1111/j.1439-0272.1977.tb01276.x
Reference
  Authors
Shiraishi K, Naito K
  Title
Fertile eunuch syndrome with the mutations (Trp8Arg and Ile15Thr) in the beta subunit of luteinizing hormone.
  Journal
Endocr J 50:733-7 (2003)
DOI:10.1507/endocrj.50.733
Reference
PMID:19126631 (drug)
  Authors
Valdes-Socin H, Salvi R, Thiry A, Daly AF, Pralong FP, Gaillard R, Beckers A
  Title
Testicular effects of isolated luteinizing hormone deficiency and reversal by long-term human chorionic gonadotropin treatment.
  Journal
J Clin Endocrinol Metab 94:3-4 (2009)
DOI:10.1210/jc.2008-1584
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