Abstract


Background: Aromatase deficiency is a rare autosomal recessive disorder produced by CYP19 gene mutations. 46,XX affected patients presented with ambiguous genitalia leading to early identification. Most 46,XY affected patients presented with normal male external genitalia and the condition remains undiagnosed until late puberty. Information on pubertal development in affected boys is scarce since to the present date only 2 pediatric patients without long term follow-up had been reported. view more

Background: Aromatase deficiency is a rare autosomal recessive disorder produced by CYP19 gene mutations. 46,XX affected patients presented with ambiguous genitalia leading to early identification. Most 46,XY affected patients presented with normal male external genitalia and the condition remains undiagnosed until late puberty. Information on pubertal development in affected boys is scarce since to the present date only 2 pediatric patients without long term follow-up had been reported. We report the clinical phenotype and hormonal studies of a 46,XY aromatase deficient boy during pre-puberty and early puberty.

Clinical case: Molecular analysis revealed a previously reported homozygous mutation (R192C) in the CYP19 gene, predicted to compromise enzyme function. The patient was the older brother of a 46,XX affected sister. Maternal virilisation was present during both pregnancies. First evaluation at 7.9 ys old: 3 years delayed bone age was the only remarkable finding observed. Laboratory tests showed normal prepubertal basal serum gonadotropin (including an adequate GnRH stimulation test), inhibin B, AMH, testosterone and androstendione levels. OGTT was normal as well as bone mass, assessed by DEXA. The patient was followed in other center. Pubertal onset was observed at 9.8 ys, as assessed by testicular volume (right 4 cc and left 3cc) and basal testosterone level (0.57 ng/ml). The patient returned to our hospital at 11.3 years of age with signs of advanced puberty (Tanner stage IV, testicular volume 10/10 ml). Bone age was 2 ys delayed. Laboratory tests revealed normal pubertal basal and GnRH stimulated gonadotropin levels and increased serum testosterone (5.9 ng/ml, male reference range for Tanner IV: 1-5.4 ng/ml).

Conclusion: Estrogen restrain on gonadotropin secretion has been demonstrated in animal and human models of estrogen deficiency. In normal boys, estrogens are the main sex steroid involved in the negative feedback control of gonadotropin secretion during early and mid-puberty. Normal pubertal development was referred in adult men with aromatase deficiency; however the use of aromatase inhibitors in pubertal boys was associated with increased serum gonadotropin and testosterone levels, raising concern regarding pubertal progression. Interestingly, our patient presented with early and accelerated puberty and apparently normal pituitary gonadal function. This human model supports the role for aromatase activity in the regulation of the pubertal tempo in boys.

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