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Normal growth in aromatase excess syndrome by pharmacological inhibition of aromatase activity Beate Deubzer, Gerhard Binder Pediatric Endocrinology and Diabetology, University Children’s Hospital, Tübingen, Germany Introduction In aromatase excess syndrome the turnover from androgens to estrogens is constitutively increased. Males suffer from hyperestrogenism (particularly gynecomastia), hypogonadism and short stature due to early epiphyseal closure. We compared the statural growth of two affected first degree cousins who received and did not receive treatment with an aromatase inhibitor during puberty. Both cousins have a heterozygote deletion within the regulatory part of the CYP19A1 gene locus of the aromatase gene. Conclusion Treatment with aromatase inhibitors can effectively prevent short stature in aromatase excess syndrome. Case Report Cousin 1 was diagnosed at the age of 18 years (index patient of Cousin 2 presented at an age of 9 years with beginning signs of the family). He suffered from incomplete virilisation and had had hyperestrogenism (breast development) and was immediately gynecomastia and advanced bone age during puberty. His diagnosed due to his relationship with cousin 1. Treatment with testosterone to estrogen level was pathologically low and his LH anastrozole 1 mg orally was given and he already reached a nor- and FSH levels were low normal. By treatment with an aromatase mal adult height of 175 cm at the age of 15 years (0.75 SDS). His inhibitor for promotion of virilisation his adult height of 162 cm father [F] was of short stature (162.7 cm) due to untreated (-2.3 SDS) could not be improved (testolacton 5 mg/kg/d for aromatase excess syndrome. 1 year, then anastrozole 1 mg/d for 1 year). His mother [M] was of short stature (148 cm) due to untreated aromatase excess syndrome. 200 200 Cousin 1 Cousin 2 190 190 180 F 179 cm 180 170 170 M 168 cm F 163 cm 160 160 150 150 M 148 cm ] m 140 140 c [ Testolacton t h g i e 130 130 H Height [cm] Anastrozole 120 120 Gynecomastia Anastrozole 110 110 Anastrozole 100 100 Gynecomastia 90 90 80 80 70 70 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 Age [yrs] Age [yrs] Age at Height Bone age Age at Height Height at start of at start of at start of Medication end of at end of 4 years treatment treatment treatment treatment treatment testolacton 101 cm 162 cm 5 mg/d; 162 cm Cousin 1 18 years 19 years 20 years (-0.9 SDS) (-2.3 SDS) anastrozole (-2.3 SDS) 1 mg/d 102 cm 140 cm anastrozole 175 cm Cousin 2 9 years 12 years 15.5 years (-0.7 SDS) (+0.8SDS) 1 mg/d (+0.4 SDS) Contact: [email protected] Conflicts of Interest: The authors have nothing to declare..

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