Dehner, "McCune-Albright syndrome presenting with unilateral macroorchidism
and bilateral testicular masses," Pediatric Radiology, vol.
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).
Classic features of FXS are elongated face, large and protruding ears, and macroorchidism
. Other physical features and medical problems may include high-arched palate, strabismus, refractive error, frequent sinusitis and otitis, excessive joint laxity, hyperextensible metacarpophalangeal joints, double-jointed thumbs, flat or pronated feet, softness and smoothness of the skin, hand calluses, cardiovascular abnormalities (e.g., aortic root dilation, mitral valve prolapse), neurological involvement (e.g., hypotonia, motor incoordination, and seizure), gastrointestinal problems (e.g., gastroesophageal reflux, constipation, and loose bowel movements), obstructive sleep apneas, and unusual growth patterns (e.g., increased birth weight, macrocephaly).
At physical examination bilateral nystagmus, microcephaly, spastic quadriplegia, and macroorchidism
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.
Management of macroorchidism
using leuprolide acetate.
For this issue you will find topics like; "NAFLD in normolipidemic patients with 1 hour Hyperglycemia", "Vitamin D and Diabetes Mellitus", "Macroorchidism
in a Patient with FSH-Oma" "Atypical presentation of Pagef's Disease of bone"," Papillary carcinoma incidentally found in Graves Disease", "Inappropriate TSH Syndrome".
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.
The symptoms can include profoundly delayed speech, mental impairment, behavior problems, and distinctive physical traits (e.g., facial features [long faces, prominent ears], connective tissue problems, double-jointed-ness, and macroorchidism
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.
Its precise physiological function is not known, but a deficiency of IGSF1 protein results in deficiencies of TSH and prolactin, pubertal delay and macroorchidism
after adolescence (2).