Ovulation induction and successful pregnancy outcome in two patients with Prop1 gene mutations.
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.


METHODS
Case report.


METHODS
Academic units.


METHODS
Two patients with childhood onset of CPHD (GH, PRL, TSH, LH, FSH) caused by a genetic defect (GA296del mutation) of the Prop1 gene.


METHODS
Ovulation, pregnancy outcome, and fetal growth.


RESULTS
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.


CONCLUSIONS
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.
Voutetakis
Antonis
A
Endocrine Unit, First Department of Pediatrics, Athens University Medical School, Aghia Sophia Children's Hospital, Thivon & Livadias, Goudi 11527, Athens, Greece.
Sertedaki
Amalia
A
Livadas
Sarantis
S
Maniati-Christidi
Maria
M
Mademtzis
Ioannis
I
Bossis
Ioannis
I
Dacou-Voutetakis
Catherine
C
Messinis
Ioannis E
IE
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D005314:Embryonic and Fetal Development / Q000502:physiology; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007246:Infertility / Q000235:genetics; D009154:Mutation; D010062:Ovulation Induction / Q000379:methods*; D011247:Pregnancy; D011256:Pregnancy Outcome; D014157:Transcription Factors / Q000235:genetics
D018398:Homeodomain Proteins; C102134:Prophet of Pit-1 protein; D014157:Transcription Factors