Srpski arhiv za celokupno lekarstvo 2014 Volume 142, Issue 11-12, Pages: 728-731
https://doi.org/10.2298/SARH1412728D
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Low estriol levels in the maternal marker screen as a predictor of X-linked adrenal hypoplasia congenita: Case report
Durković Jasmina (Department of Genetics, Hospital Subotica, Subotica)
Milenković Tatjana (Institute for Mother and Child Health Care of Serbia “Dr Vukan Čupić”, Department of Endocrinology, Belgrade)
Krone Nils (University of Birmingham, School of Clinical and Experimental Medicine, Birmingham, United Kingdom)
Parajes Silvia (University of Birmingham, School of Clinical and Experimental Medicine, Birmingham, United Kingdom)
Mandić Bojana (MegaLab Biochemical Laboratory, Subotica)
Introduction. X-linked adrenal hypoplasia congenita (AHC) is a rare cause of
adrenocortical insufficiency. Early postnatal diagnosis may prevent severe
hypoglycemia, Addisonian crises and death. Low maternal estriol (E3) levels
in the second trimester of pregnancy could indicate the possibility that the
fetus suffers from a disorder that causes adrenal insufficiency. Suspicion
is based on the fact that E3 originates from dehydroepiandrosterone (DHEA)
synthesized in the fetal adrenals. In case of adrenal insufficiency, the
impaired production of fetal DHEA leads to a subsequent reduction of E3
concentrations in maternal serum. There are only a few reports of AHC
suspected prenatally due to low maternal E3 levels. Case Outline. We
describe two brothers with adrenal insufficiency due to AHC. The older
brother was admitted to the hospital at the age of 33 days due to failure to
thrive, vomiting, and dehydration. Genetic analysis revealed a hemizygous
mutation in DAX-1 gene, thus confirming the diagnosis of ACH. The same
mutation was detected in his mother. In the second pregnancy, E3
concentrations were determined from maternal serum. Estriol levels during
the second trimester were extremely low suggesting the diagnosis of AHC. The
diagnosis was confirmed during the neonatal period by genetic testing, and
replacement therapy was started at the age of 10 days. This boy never
experienced an adverse episode such as hypoglycemia or adrenal crises.
Conclusion. Since determination of E3 is a simple, sensitive, noninvasive
and cheap method, its use as an obligatory prenatal screening test should be
accepted as a standard practice in Serbia.
Keywords: free estriol in maternal serum, prenatal diagnosis, X-linked adrenal hypoplasia congenita