Pregnancy in classic galactosemia despite undetectable anti-Müllerian hormone.
OBJECTIVE
To report a pregnancy in a patient with classic galactosemia despite signs of no ovarian reserve to draw attention to the limited predictive value of ovarian reserve tests in these patients.


METHODS
Case report.


METHODS
Secondary and tertiary care center.


METHODS
A patient with classic galactosemia with premature ovarian failure and two previous pregnancies.


METHODS
Exogenous FSH ovarian reserve test and anti-Müllerian hormone (AMH) measurement.


METHODS
17beta-Estradiol response, AMH level.


RESULTS
Pregnancy despite undetectable AMH (<0.1 microg/L) and no E(2) response (exogenous FSH ovarian reserve test).


CONCLUSIONS
Fluctuating premature ovarian failure makes fertility counseling of patients with classic galactosemia difficult. Commonly used ovarian function and reserve tests seem to have no significance.
Gubbels
Cynthia S
CS
Department of Pediatrics, Maastricht University Medical Center, Maastricht, The Netherlands.
Kuppens
Simone M I
SM
Bakker
Jaap A
JA
Konings
Constantijn J A M
CJ
Wodzig
K Will
KW
de Sain-van der Velden
Monique G M
MG
Menheere
Paul P
PP
Rubio-Gozalbo
M Estela
ME
D000328:Adult; D054304:Anti-Mullerian Hormone / Q000032:analysis* / Q000097:blood; D003940:Diagnostic Techniques, Endocrine; D005260:Female; D005693:Galactosemias / Q000097:blood / Q000150:complications / Q000175:diagnosis*; D020073:Gravidity; D006801:Humans; D011247:Pregnancy; D011248:Pregnancy Complications / Q000097:blood / Q000175:diagnosis*; D016649:Primary Ovarian Insufficiency / Q000097:blood / Q000175:diagnosis / Q000209:etiology
D054304:Anti-Mullerian Hormone