, Volume 14, Issue 1, pp 142–147 | Cite as

Long-term growth hormone treatment in a boy with 45,X/46,X,idic(Yp) mixed gonadal dysgenesis: comparison with growth pattern of an untreated patient

  • Silvano BertelloniEmail author
  • Eleonora Dati
  • Angelo Valetto
  • Veronica Bertini
  • Alfredo Danti
  • Giampiero I. Baroncelli
Case report


BACKGROUND: Mixed gonadal dysgenesis (MGD) is a rare disorder. Short stature is a well known feature of this condition. Although growth hormone (GH) treatment has been suggested to treat growth impairment, conflicting data surround this issue. CASE REPORT: We report on long-term growth hormone (GH) therapy at pharmacological doses (0.33 mg/kg/week) in a boy (age 4.6 years) with MGD [karyotype 45,X/46,X,idic(Yp)]. An untreated boy of similar karyotype and growth delay served as control. The treated boy showed a progressive improvement of stature during GH administration. His height completely normalized after 6.5 years of treatment and he reached his target height centile before puberty onset. In the untreated boy, no improvement of growth pattern was found. CONCLUSIONS: We conclude that short boys with MGD and 45,X/46,X,idic(Yp) karyotype may benefit from early GH therapy at pharmacological doses. Evaluation of larger patient samples and additional follow-up till final height are needed to reach definitive conclusions as to the optimal growth-promoting therapy for this disorder of sex development.

Key words

45,X/46,X,idic(Yp) Growth hormone treatment Karyotype Mixed gonadal dysgenesis Short stature SHOX 


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Copyright information

© Hellenic Endocrine Society 2015

Authors and Affiliations

  • Silvano Bertelloni
    • 1
    Email author
  • Eleonora Dati
    • 2
  • Angelo Valetto
    • 3
  • Veronica Bertini
    • 3
  • Alfredo Danti
    • 4
  • Giampiero I. Baroncelli
    • 1
  1. 1.Adolescent Medicine, I Pediatric Division, Department of Obstetrics, Gynecology and PediatricsAzienda Ospedaliero-Universitaria PisanaPisaItaly
  2. 2.Division of Pediatric Oncology, Department of Obstetrics, Gynecology and PediatricsAzienda Ospedaliero-Universitaria PisanaPisaItaly
  3. 3.Laboratory of Medical Genetics, Department of Laboratory MedicineAzienda Ospedaliero-Universitaria PisanaPisaItaly
  4. 4.Department of Pediatric UrologyPediatric Hospital “A. Meyer”FlorenceItaly

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