Rare Diseases Symptoms Automatic Extraction

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 17β-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 CYP19A1 gene.Low doses of 17β-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 17β-estradiol treatment the ovaries of the patient showed a multicystic appearance, which reversed on 17β-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 presenting "early childhood" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • alpha-thalassemia
  • aniridia
  • aromatase deficiency
  • benign recurrent intrahepatic cholestasis
  • canavan disease
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • cystinuria
  • erythropoietic protoporphyria
  • fabry disease
  • gm1 gangliosidosis
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kindler syndrome
  • papillon-lefèvre syndrome
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • triple a syndrome
  • werner syndrome

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