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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.

AbstractBACKGROUND:
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.
AuthorsSilvano Bertelloni, Eleonora Dati, Angelo Valetto, Veronica Bertini, Alfredo Danti, Giampiero I Baroncelli
JournalHormones (Athens, Greece) (Hormones (Athens)) 2015 Jan-Mar Vol. 14 Issue 1 Pg. 142-7 ISSN: 2520-8721 [Electronic] Switzerland
PMID25402381 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Human Growth Hormone
Topics
  • Body Height (drug effects)
  • Child
  • Child, Preschool
  • Gonadal Dysgenesis, Mixed (drug therapy)
  • Growth Disorders (drug therapy)
  • Human Growth Hormone (pharmacology, therapeutic use)
  • Humans
  • Male
  • Treatment Outcome

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