PASQUALINI SYNDROME

FERTILE EUNUCH SYNDROME

HH23

http://purl.bioontology.org/ontology/OMIM/228300

PASQUALINI SYNDROME

FERTILE EUNUCH SYNDROME

HH23

C0271582

19q13.32

LHB

HH23

http://purl.bioontology.org/ontology/OMIM/MTHU006965

http://purl.bioontology.org/ontology/OMIM/MTHU047884

http://purl.bioontology.org/ontology/OMIM/MTHU046373

http://purl.bioontology.org/ontology/OMIM/MTHU048890

http://purl.bioontology.org/ontology/OMIM/MTHU048894

http://purl.bioontology.org/ontology/OMIM/MTHU048895

http://purl.bioontology.org/ontology/OMIM/MTHU048896

http://purl.bioontology.org/ontology/OMIM/MTHU048897

http://purl.bioontology.org/ontology/OMIM/MTHU048887

http://purl.bioontology.org/ontology/OMIM/MTHU007202

http://purl.bioontology.org/ontology/OMIM/MTHU048888

http://purl.bioontology.org/ontology/OMIM/MTHU048891

http://purl.bioontology.org/ontology/OMIM/MTHU048892

http://purl.bioontology.org/ontology/OMIM/MTHU037936

http://purl.bioontology.org/ontology/OMIM/MTHU048886

http://purl.bioontology.org/ontology/OMIM/MTHU048553

http://purl.bioontology.org/ontology/OMIM/MTHU048884

http://purl.bioontology.org/ontology/OMIM/MTHU048889

http://purl.bioontology.org/ontology/OMIM/MTHU048883

http://purl.bioontology.org/ontology/OMIM/MTHU048885

http://purl.bioontology.org/ontology/OMIM/MTHU008631

http://purl.bioontology.org/ontology/OMIM/MTHU008632

http://purl.bioontology.org/ontology/OMIM/MTHU004823

http://purl.bioontology.org/ontology/OMIM/MTHU048893

Phenotype description, molecular basis known.

228300

3

pound

HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA

Some male patients exhibit some degree of spermatogenesis, hence the designation 'fertile eunuch syndrome' has been used [MISCELLANEOUS]

Caused by mutation in the luteinizing hormone beta-polypeptide gene (LHB, 152780.0001) [MOLECULAR BASIS]

Affected females have apparently normal puberty but later develop secondary amenorrhea with anovulatory cycles [MISCELLANEOUS]

T047