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Hormonal therapy in a patient with a delayed diagnosis of Turner's syndrome

Nature Clinical Practice Endocrinology & Metabolism volume 4, pages 173–177 (2008)Cite this article

Abstract

Background A 15-year-old girl presented to our clinic with short stature and delayed puberty. On examination her height was 139.3 cm, which is 13.2 cm below the 3rd percentile on a standard growth chart, and she had no clinical signs of puberty. A number of typical features of Turner's syndrome were found, including a short webbed neck, cubitus valgus, shield chest, multiple pigmented nevi, lymphedema, epicanthus and micrognathia.

Investigations Plasma follicle-stimulating hormone and luteinizing hormone levels were increased. A pelvic ultrasound demonstrated a small uterus, but the ovaries could not be visualized. The patient's bone age was 12–13 years. A horseshoe kidney was seen on renal ultrasound and an echocardiography revealed aortic coarctation. The 45,X karyotype confirmed the diagnosis.

Diagnosis Turner's syndrome.

Management Growth hormone therapy (1 IU/kg/week; ∼0.05 mg/kg/day) was started together with oxandrolone (0.05 mg/kg/day) and transdermal estrogen. The dose of estrogen was gradually increased from 12.5 µg/day to 25.0 µg/day and then to 50.0 µg/day over a period of 12 months. Growth hormone and oxandrolone were withdrawn after 1 year, when the patient's epiphyses had fused. Hormonal replacement therapy with estrogens was continued and the patient has reached stage 3 of pubertal development and a final height of 148.5 cm.

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Figure 1: The patient's phenotype.

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Acknowledgements

Consent for the publication of Figure 1 was obtained from the patient.

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Authors and Affiliations

  1. A Gawlik is an assistant in Pediatric Endocrinology and E Malecka-Tendera is Head of Department at the Department of Pediatric Endocrinology and Diabetes of the Medical University of Silesia, Katowice, Poland.,

    Aneta Gawlik & Ewa Malecka-Tendera

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  1. Aneta Gawlik
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  2. Ewa Malecka-Tendera
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Correspondence to Ewa Malecka-Tendera.

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Gawlik, A., Malecka-Tendera, E. Hormonal therapy in a patient with a delayed diagnosis of Turner's syndrome. Nat Rev Endocrinol 4, 173–177 (2008). https://doi.org/10.1038/ncpendmet0747

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