KEGG DISEASE: Fertile eunuch syndrome

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 in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the pituitary hormone system
    5A61  Hypofunction or certain other specified disorders of pituitary gland
     H01973  Fertile eunuch syndrome

Pathway

GnRH signaling pathway

Prolactin signaling pathway

Ovarian steroidogenesis

Gene

LHB [HSA:3972] [KO:K08521]

Other DBs

ICD-11:

OMIM:

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

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

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

LinkDB

» Japanese version

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