The FXS phenotype of those affected is variable and is more evident in men after adolescence, who can present with intellectual disability (ID) ranging from mild to severe; physical findings, including long face, large or winged ears, and macroorchidism are often observed (4, 5).
The classic phenotype of patients with FXS includes physical characteristics such as large and winged ears, with a large and elongated jaw, connective tissue abnormalities including joint hypermobility and macroorchidism (4).
McCune Albright syndrome may lead to pituitary micro or macroadenomas and related excessive secretion of GH and/or prolactin, acromegaly due to severe FD, unilateral or bilateral macroorchidism and rarely a clinical picture of precocious puberty secondary to sulphatase activity.
Macroorchidism in an Indian Boy with McCune-Albright Syndrome.
Management of macroorchidism
using leuprolide acetate.
An estimated one in 3,800 males exhibits the full mutation, and about 90 percent of those with the full mutation will display low IQ, characteristic physical features such as an elongated face and macroorchidism
(grossly enlarged testes), and behaviors such as hand-flapping and palm-biting.
Upon further inquiry, the father indicates that the patient also exhibits macroorchidism
although he reports that no physician or dentist has suggested a work up for Fragile X.
Fragile X syndrome (FXS; OMIM +309550) is an X-linked disorder characterized by moderate to severe mental impairment, macroorchidism
, large ears, prominent jaw, and high-pitched jocular speech.
Hypothalamic-pituitary gonadal axis in boys with primary hypothyroidism and macroorchidism
Several cases of FSH-secreting microadenoma with macroorchidism have been reported (8), (9).
A testicular volume <95th percentile for age is considered macroorchidism (11).
Macroorchidism may be a consequence of a high number of Sertoli cells and is generally associated with elevated FSH levels.