Growth failure from birth that is due to mutations in a gene (TRIM37) on chromosome 17q22-q23 which encodes a RING-B-box-coiled-coil protein.
A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
A gonadal stromal neoplasm composed only of THECA CELLS, occurring mostly in the postmenopausal OVARY. It is filled with lipid-containing spindle cells and produces ESTROGENS that can lead to ENDOMETRIAL HYPERPLASIA; UTERINE HEMORRHAGE; or other malignancies in postmenopausal women and sexual precocity in girls. When tumors containing theca cells also contain FIBROBLASTS, they are identified as thecoma-fibroma tumors with less active hormone production.

Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas. (1/1)

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MULIBREY NANISM is a rare genetic disorder characterized by growth retardation, small size (nanism), muscle and liver abnormalities, and abnormalities in the structure of the heart. The name "MULIBREY" is an acronym derived from the names of some of the organs involved: **MU**scle, **LI**ver, **BR**ain, and **EY**e.

The disorder is caused by mutations in the TRIM37 gene, which provides instructions for making a protein that helps regulate the growth and division of cells. Mutations in this gene lead to an overproduction of the protein, which can interfere with normal development and result in the symptoms of MULIBREY NANISM.

The disorder is typically diagnosed in infancy or early childhood based on physical examination, medical history, and imaging studies. Treatment may include management of specific symptoms, such as heart problems, liver abnormalities, and growth hormone deficiency. The prognosis for individuals with MULIBREY NANISM varies depending on the severity of their symptoms.

Dwarfism is a medical condition that is characterized by short stature, typically with an adult height of 4 feet 10 inches (147 centimeters) or less. It is caused by a variety of genetic and medical conditions that affect bone growth, including skeletal dysplasias, hormonal deficiencies, and chromosomal abnormalities.

Skeletal dysplasias are the most common cause of dwarfism and are characterized by abnormalities in the development and growth of bones and cartilage. Achondroplasia is the most common form of skeletal dysplasia, accounting for about 70% of all cases of dwarfism. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene and results in short limbs, a large head, and a prominent forehead.

Hormonal deficiencies, such as growth hormone deficiency or hypothyroidism, can also cause dwarfism if they are not diagnosed and treated early. Chromosomal abnormalities, such as Turner syndrome (monosomy X) or Down syndrome (trisomy 21), can also result in short stature and other features of dwarfism.

It is important to note that people with dwarfism are not "dwarves" - the term "dwarf" is a medical and sociological term used to describe individuals with this condition, while "dwarves" is a term often used in fantasy literature and media to refer to mythical beings. The use of the term "dwarf" can be considered disrespectful or offensive to some people with dwarfism, so it is important to use respectful language when referring to individuals with this condition.

A thecoma is a type of ovarian sex cord-stromal tumor, which are rare tumors that develop from the supporting cells (stromal cells) or the cells that produce hormones (sex cord cells) in the ovary. These tumors account for about 2% of all ovarian tumors.

Thecomas specifically arise from stromal cells that produce estrogen and other sex hormones. They are typically slow-growing and may not cause any symptoms, or they may cause symptoms related to hormonal imbalances such as irregular menstrual periods, vaginal bleeding, or postmenopausal bleeding. In some cases, thecomas can also grow large enough to cause abdominal discomfort or bloating.

Most thecomas are benign (non-cancerous), but a small percentage of them can be malignant (cancerous) and may spread to other parts of the body. Treatment for thecomas typically involves surgical removal of the tumor, and in some cases, hormonal therapy or chemotherapy may also be recommended.

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