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Ovulation induction and successful pregnancy outcome in two patients with Prop1 gene mutations
Antonis Voutetakis1, Amalia Sertedaki, Sarantis Livadas
1Endocrine Unit, First Department of Pediatrics, Athens University Medical School, Aghia Sophia Children's Hospital, Thivon & Livadias, Goudi 11527, Athens, Greece.
Objective:
To describe ovulation induction and pregnancy outcome in a unique model of genetically determined combined pituitary hormone deficiency (CPHD), with respect to the necessity for GH substitution therapy.
Design:
Case report.
Setting:
Academic units.
Patient(S):
Two patients with childhood onset of CPHD (GH, PRL, TSH, LH, FSH) caused by a genetic defect (GA296del mutation) of the Prop1 gene.
Main Outcome Measure(S):
Ovulation, pregnancy outcome, and fetal growth.
Result(S):
Successful pregnancy outcome and delivery of normal, full-term newborns were achieved in both patients with the use of gonadotropins and L-T(4). Growth hormone supplementation was not necessary. No lactation was observed.
Conclusion(S):
Patients with Prop1 gene mutations constitute a unique model for studying the role of GH and PRL in ovulation, pregnancy, and fetal growth. Our data indicate that for women with CPHD, ovulation and pregnancy are possible with a classic regimen for hypogonadotropic hypogonadism, without the need for GH substitution therapy.
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