Impact of estrogen replacement throughout childhood on growth, pituitary-gonadal axis and bone in a 46,XX patient with CYP19A1 deficiency.

[aromatase deficiency]

The adequate replacement dose of estrogens during infancy and childhood is still not known in girls . Aromatase deficiency offers an excellent model to study how much estrogens are needed during infancy , childhood and adulthood .We studied the impact of oral 17 Î²-estradiol treatment , on longitudinal growth , bone age maturation , pituitary gonadotropin feedback , multicystic ovaries and bone mass in the long -term follow-up of a girl compound heterozygote for two point mutations of the CYP 19 A 1 gene .L ow doses of 17 Î²-estradiol were needed to achieve normal height velocity and adequate bone age maturation from early childhood on . Serum estradiol levels needed for breast development and for the appearance of an endometrial reflex were not sufficient to achieve physiological gonadotropin levels . Without 17 Î²-estradiol treatment the ovaries of the patient showed a multicystic appearance , which reversed on 17 Î²-estradiol replacement . Bone mass was within normal ranges during the whole follow-up period .In summary , we have shown that estradiol is needed not only in puberty but also in childhood for normal growth , bone maturation and achievement of normal bone mass . Particularly , this observation underscores the importance of early low -dose estrogen replacement also in other estrogen-deficient conditions as for instance in Turner 's syndrome .

Diseases
Validation

Diseases presenting "mutations of the cyp19a1 gene.low" symptom

aromatase deficiency

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