Juberg Marsidi syndrome


A very rare inherited disorder characterized by severe mental retardation, delayed developmental milestones, muscle problems and growth retardation. The range and severity of symptoms is variable.


* Small head * Deafness * Flat nasal bridge * Ocular anomalies * Small genitals * Severe mental retardation * Delayed achievement of developmental milestones * Delayed crawling * Delayed walking * Muscle weakness * Reduced muscle tone * Delayed bone growth * Growth retardation * Short stature


* Pubertal –Prevalence 40–69% in adolescent males –Onset by 10–12 years old –Peaks at 13–14 years, Tanner III staging –Resolution in 1–2 years in 75% –Obese patients more affected * Several drugs can cause gynecomastia –Antiandrogens: Flutamide, finasteride, ketoconazole, spironolactone –GI agents: Cimetidine, ranitidine –Calcium channel blockers: Verapamil, nifedipine –Illicit drugs: Marijuana, heroin, methadone, amphetamines –Hormones: Androgens, anabolic steroids, estrogens –Psychiatric: Phenothiazines, diazepam, tricyclic antidepressants - Androgen insufficiency –Klinefelter syndrome (47, XXY) –Seminiferous tubule dysgenesis –Testicular failure –Androgen-insensitivity syndrome, androgen receptor defects –Biosynthetic defects in testosterone production –Isolated LH deficiency * Excess estrogen –Feminizing adrenocortical tumors (rare) * Testicular neoplasms –Germ cell tumors: Associated with hCG production; hCG leads to Leydig cell dysfunction and increased aromatase –Leydig cell tumors secrete estradiol –Sertoli cell tumors: Associated with excessive aromatase activity - Pseudogynecomastia –Fat deposition without glandular development –Seen in obesity - Other breast enlargement (not true gynecomastia) –Neurofibroma –Carcinoma of breast –Hemangioma –Lipoma * Reifenstein syndrome * Kallmann syndrome * Liver cirrhosis


Audiometry and caloric testing or electronystagmography should be done in almost all cases in which the ear examination is normal. It is probably wise to consult an otolaryngologist at this point. Tympanography will be helpful in diagnosing subtle cases of serous otitis media. X-rays of the mastoids, petrous bones, and internal auditory canal should be done for chronic otitis media, cholesteatoma, and acoustic neuroma. If an acoustic neuroma is suspected, however, an MRI of the brain and auditory canals must be done. If basilar artery insufficiency is suspected, four-vessel cerebral angiography should be done. Magnetic resonance angiography is an excellent noninvasive alternative for diagnosing vertebral-basilar artery disease. If multiple sclerosis is suspected, MRI of the brain, BSEP and VEP studies, and a spinal tap for spinal fluid analysis may be done. Rather than perform these tests, the most cost-effective approach would be to refer the patient to a neurologist if other focal neurologic findings are evident.


* Pubertal –No treatment if pubertal development and physical exam are normal –Re-evaluation in 6 months * Cessation of drugs when implicated * Testosterone replacement if indicated for hypogonadism * Weight loss for pseudogynecomastia * Surgery (reduction mammoplasty) if severe and psychologically distressing * Persistent pubertal gynecomastia –Therapy is investigational; no large trials completed yet –Antiestrogens (clomiphene and tamoxifen) –Aromastase inhibitors (testolactone)