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Macroorchidism
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Macroorchidism
Macroorchidism is a disorder found in males, specifically in children, where a subject has abnormally large testes. The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual disability. The condition is also a rare sign of McCune–Albright syndrome. The opposite of macroorchidism is called microorchidism, which is the condition of abnormally small testes.
Macroorchidism is related to IGFS1 deficiency, which causes an increase in the secretion of follicle stimulating hormone (FSH). There are other causes for macroorchidism, such as hypothyroidism, local tumors, and aromatase deficiency. Macroorchidism can be diagnosed by measuring the testicular volume using a prader orchidometer. There is no cure for macroorchidism; however, medications are currently being tested and used to control the disorder to promote quality living.
The most distinguishing physical symptom of macroorchidism in patients is increased testicular size. To determine the enlargement of testes (i.e., macroorchidism), the testes must be greater than the 95th percentile of the confidence interval in males after puberty. The 95th percentile means that a child's testicular size exceeds 95% of children similar in age. This rules out males with early puberty. Another symptom of macroorchidism is an increase in testicular volume that is at least twice the normal testicular volume for a child's age.
Macroorchidism is mostly found in prepubescent boys with fragile X syndrome. However, true macroorchidism does not start until the testicular size is greater than 4 mL, which can only occur later in the prepubertal period. Because macroorchidism is associated with fragile X syndrome patients, the signs in patients with FXS is similar in patients with macroorchidism. These signs include protruding ears, long face, bulging jaw and forehead, macrocephaly, mid-facial hypoplasia, and a high arched palate.
Even though FXS affects both males and females, the prevalence in males is approximately 1 in 4000 males.
The cause of macroorchidism is still unclear. However, there are studies that show a connection between macroorchidism and other disorders related to hormones that reveal their possible role with abnormal enlargement of testes. An excessive increase in the interstitial volume and connective tissue of testes can lead to macroorchidism.
There are other causes of macroorchidism such as long-standing primary hypothyroidism, adrenal tissue remains in congenital adrenal hyperplasia (CAH), follicle-stimulating hormone (FSH) secreting pituitary macroadenomas, local tumors, lymphomas, and aromatase deficiency.
Macroorchidism results from an increased secretion of the follicle-stimulating hormone. The follicle-stimulating hormone is secreted without being affected by an increase in the secretion of the luteinizing hormone (LH) or a luteinizing hormone response to Gonadotropin-releasing hormone (GnRH).
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Macroorchidism
Macroorchidism is a disorder found in males, specifically in children, where a subject has abnormally large testes. The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual disability. The condition is also a rare sign of McCune–Albright syndrome. The opposite of macroorchidism is called microorchidism, which is the condition of abnormally small testes.
Macroorchidism is related to IGFS1 deficiency, which causes an increase in the secretion of follicle stimulating hormone (FSH). There are other causes for macroorchidism, such as hypothyroidism, local tumors, and aromatase deficiency. Macroorchidism can be diagnosed by measuring the testicular volume using a prader orchidometer. There is no cure for macroorchidism; however, medications are currently being tested and used to control the disorder to promote quality living.
The most distinguishing physical symptom of macroorchidism in patients is increased testicular size. To determine the enlargement of testes (i.e., macroorchidism), the testes must be greater than the 95th percentile of the confidence interval in males after puberty. The 95th percentile means that a child's testicular size exceeds 95% of children similar in age. This rules out males with early puberty. Another symptom of macroorchidism is an increase in testicular volume that is at least twice the normal testicular volume for a child's age.
Macroorchidism is mostly found in prepubescent boys with fragile X syndrome. However, true macroorchidism does not start until the testicular size is greater than 4 mL, which can only occur later in the prepubertal period. Because macroorchidism is associated with fragile X syndrome patients, the signs in patients with FXS is similar in patients with macroorchidism. These signs include protruding ears, long face, bulging jaw and forehead, macrocephaly, mid-facial hypoplasia, and a high arched palate.
Even though FXS affects both males and females, the prevalence in males is approximately 1 in 4000 males.
The cause of macroorchidism is still unclear. However, there are studies that show a connection between macroorchidism and other disorders related to hormones that reveal their possible role with abnormal enlargement of testes. An excessive increase in the interstitial volume and connective tissue of testes can lead to macroorchidism.
There are other causes of macroorchidism such as long-standing primary hypothyroidism, adrenal tissue remains in congenital adrenal hyperplasia (CAH), follicle-stimulating hormone (FSH) secreting pituitary macroadenomas, local tumors, lymphomas, and aromatase deficiency.
Macroorchidism results from an increased secretion of the follicle-stimulating hormone. The follicle-stimulating hormone is secreted without being affected by an increase in the secretion of the luteinizing hormone (LH) or a luteinizing hormone response to Gonadotropin-releasing hormone (GnRH).