Effects of estrogen replacement therapy on bone and glucose metabolism in a male with congenital aromatase deficiency.

[aromatase deficiency]

Little is known about the impact of estrogen replacement therapy for bone formation , glucose metabolism and hormonal parameters on males with aromatase deficiency . Transdermal estrogen (TE ) replacement was initiated at 100 microg /week in months 0 -3 , 50 microg /week in months 3 -6 , 25 microg /week in months 6 -12 , 75 microg /week in months 12 -24 , and 25 microg /week in months 24 -36 to substitute for the deficiency in a 27 -year -old homozygous male with a mutation on the CYP 19 gene . Estradiol levels increased from <10 at baseline to 45 , 12 , 27 and 17 pg /ml (normal range 10 -50 ) after 6 , 12 , 24 and 36 months , and inversely correlated to LH and FSH levels . Testosterone levels changed from 31 .2 nmol /l at baseline to 3 .8 , 22 .1 , 7 .1 and 22 .0 nmol /l (9 .5 -30 ) after 6 , 12 , 24 and 36 months , respectively , and correlated closely to basal and stimulated LH and FSH levels at 100 microg GnRH . Bone maturation progressed , and metacarpal and phalangeal epiphysis closed after 12 months . Spongiosa-hydroxyapatite of the radius assessed by quantitative computed tomography changed from 52 to 83 , 51 , 69 and 71 mg /cm 3 (120 -160 ); bone mineral density of the lumbar spine assessed by dual energy X-ray -absorptiometry (normal value >1 .150 ) increased from 0 .971 (T -Score -2 .24 ) to 1 .043 (-1 .64 ), 1 .065 (-1 .46 ), 1 .128 (-0 .93 ) g /cm 2 and 1 .021 (-1 .82 ) after 6 , 12 , 24 and 36 months of TE , respectively . Osteocalcin as a bone formation parameter and aminoterminal collagen type I telopeptide as a bone resorption parameter increased during high -dose estrogen supplementation , and then decreased during the lower doses . Lipoprotein (a ) increased from 20 mg /dl at baseline to 60 and 62 mg /dl after 6 and 12 months , and then decreased to 24 and 25 mg /dl after 24 and 36 months , respectively , while total cholesterol , HDL , LDL and triglycerides did not change . AUC glucose decreased continuously after oral glucose load , and HOMA IR reached its lowest value the 75 microg weekly estradiol dose . This study confirms the role of estrogens in achieving bone mineralization and maturation in human males . Additionally , estradiol has dual negative feedback sites that on the hypothalamus to decrease GnRH pulse frequency , and on the pituitary to decrease responsiveness to GnRH . The improvement in glucose metabolism after estrogen replacement therapy suggests a probable role of sex steroids in insulin sensitivity . The optimal weekly dose of transdermal estrogen replacement for normalizing estrogen levels and maintain bone mass in adult males with aromatase deficiency may be 50 -75 microg spread over two doses .

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Diseases presenting "oral glucose load" symptom

aromatase deficiency

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