PROGESTERONE RESISTANCE

General Information (adopted from Orphanet):

Synonyms, Signs: PSEUDOCORPUS LUTEUM INSUFFICIENCY
Number of Symptoms 8
OrphanetNr:
OMIM Id: 264080
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0008222) Female infertility 7 / 7739
2
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
(OMIM) Normal plasma immunoreactive LH and progesterone 1 / 7739
5
(OMIM) Normal luteal phase duration 1 / 7739
6
(OMIM) Normal menstrual cycle 1 / 7739
7
(OMIM) Histologically immature endometrium 1 / 7739
8
(OMIM) Decreased endometrial progesterone receptors 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Progesterone prepares the endometrium for blastocyst implantation and allows maintenance of pregnancy. The major sources of progesterone are the corpus luteum during the second half of the menstrual cycle and at the beginning of pregnancy, and the placenta. ...
Clinical Description OMIM The first report of a well-studied patient with progesterone resistance was by Keller et al. (1979). Their patient was an infertile woman with a normal menstrual cycle, a normal luteal phase duration, and normal plasma immunoreactive LH and ...
Molecular genetics OMIM Although the progesterone resistance syndrome may be due to mutations in the progesterone receptor gene, Chrousos (2002) stated that none such had been identified to that time.