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MedGen for PubMed (Select 20104428)

Items: 8

1.

Progesterone resistance

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. The main hormones responsible for stimulation of progesterone secretion are luteinizing hormone (LH) for the corpus luteum of the menstrual cycle and chorionic gonadotropin for the corpus luteum of pregnancy. Complete end-organ resistance to progesterone would be incompatible with reproductive competence in females. Males would not be expected to be affected since progesterone has no known function in men. Failure of the uterus to respond to progesterone would lead to the development of a 'constantly proliferative' endometrium incompatible with blastocyst implantation. Partial resistance to progesterone, on the other hand, would be expected to be associated with various degrees of incomplete maturation of the endometrium, perhaps expressed clinically as infertility or early abortions. The syndrome would present with the clinical and histologic picture of a luteal phase defect in which the life span of the corpus luteum and the plasma progesterone concentrations would be normal or elevated. [from OMIM]

MedGen UID:
337889
Concept ID:
C1849699
Disease or Syndrome
2.

Endometriosis

The growth of endometrial tissue outside the uterus. [from HPO]

MedGen UID:
807951
Concept ID:
CN220831
Finding
3.

Multiple fibrofolliculomas

The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, trichodiscomas/angiofibromas, perifollicular fibromas, and acrochordons), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear during the third and fourth decades of life and typically increase in size and number with age. Lung cysts are mostly bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that are typically bilateral and multifocal and usually slow growing; median age of tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (so-called oncocytic hybrid tumor) and chromophobe histologic cell types. Some families have renal tumor and/or autosomal dominant spontaneous pneumothorax without cutaneous manifestations. [from GeneReviews]

MedGen UID:
91070
Concept ID:
C0346010
Disease or Syndrome
4.

Polycystic ovaries

Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. One result is that cysts (fluid-filled sacs) develop on the ovaries. Women who are obese are more likely to have polycystic ovary syndrome. Symptoms of PCOS include: -Infertility. -Pelvic pain. -Excess hair growth on the face, chest, stomach, thumbs, or toes. -Baldness or thinning hair. -Acne, oily skin, or dandruff. -Patches of thickened dark brown or black skin. . Women with PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. Medicines can help control the symptoms. Birth control pills help women have normal periods, reduce male hormone levels, and clear acne. Other medicines can reduce hair growth and control blood pressure and cholesterol. There is no cure. NIH: National Institute of Child Health and Human Development.  [from MedlinePlus]

MedGen UID:
10836
Concept ID:
C0032460
Disease or Syndrome
5.

Genitourinary neoplasm

Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female. [from MeSH]

MedGen UID:
22583
Concept ID:
C0042065
Neoplastic Process
6.

Neoplasm of uterus

Tumors or cancer of the UTERUS. [from MeSH]

MedGen UID:
12030
Concept ID:
C0042138
Neoplastic Process
7.

Disorder of endocrine system

Your endocrine system includes eight major glands throughout your body. These glands make hormones. Hormones are chemical messengers. They travel through your bloodstream to tissues or organs. Hormones work slowly and affect body processes from head to toe. These include. -Growth and development. -Metabolism - digestion, elimination, breathing, blood circulation and maintaining body temperature . -Sexual function. -Reproduction. -Mood. If your hormone levels are too high or too low, you may have a hormone disorder. Hormone diseases also occur if your body does not respond to hormones the way it is supposed to. Stress, infection and changes in your blood's fluid and electrolyte balance can also influence hormone levels. In the United States, the most common endocrine disease is diabetes. There are many others. They are usually treated by controlling how much hormone your body makes. Hormone supplements can help if the problem is too little of a hormone.  [from MedlinePlus]

MedGen UID:
4043
Concept ID:
C0014130
Disease or Syndrome
8.

Endometriosis 1

MedGen UID:
338749
Concept ID:
C1851649
Finding
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