Macroorchidism in childhood and adolescence: an update.

[aromatase deficiency]

In the last 30 years , scientific literature has been enriched with studies which demonstrate the importance of evaluating testis volume to recognize certain genetic and endocrine diseases . Macroorchidism is defined as an increase of testicular volume at least twice the norm for age . In clinical practice , when macroorchidism is suspected , the testicular volume may be evaluated with the Prader orchidometer and /or US , calculated by this formula : L x W x H x 0 .71 and the resulting value should be compared with a table of percentiles for each age . Macroorchidism is a relatively uncommon sign ; however , when present , it almost always has clinical relevance . Five groups of conditions are reviewed : genetic , endocrine , idiopathic and secondary to neoplasm or testicular torsions . An X-linked mental retardation syndrome must be suspected in all patients with macrorchidism , phenotypic abnormalities , and mental retardation . Furthermore , it is important to identify other males affected in the same family to confirm the X-linked transmission . In these cases , the patient must be referred to specialized cytogenetic centres for determination of fragile sites . Other possible etiologies of macroorchidism are long -standing primary hypothyroidism , adrenal remnants in congenital adrenal hyperplasia , follicle stimulating hormone (FSH )-secreting pituitary macroadenomas , local tumors , lymphomas , and aromatase deficiency . Early diagnosis is important in order to identify and reduce the incidence of X-linked mental retardation in affected families and to begin treatment in endocrinologic , tumoral and surgical disorders .

Diseases
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Diseases presenting "testicular torsions" symptom

aromatase deficiency

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