Low estriol levels in the maternal marker screen as a predictor of X-linked adrenal hypoplasia congenita: case report

Srpski arhiv za celokupno lekarstvo
Jasmina DurkovićBojana Mandić

Abstract

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. 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 dur...Continue Reading

Citations

Aug 22, 2018·Annals of the New York Academy of Sciences·Ahmed KhattabMaria I New
Apr 27, 2021·Frontiers in Pharmacology·Mami KatoMasataka Sunagawa
Jun 17, 2021·BMC Endocrine Disorders·Hong OuyangXinyan Liu

❮ Previous
Next ❯

Related Concepts

Related Feeds

Addison Disease

Addison's disease, also known as primary adrenal insufficiency and hypocortisolism, is a long-term endocrine disorder in which the adrenal glands do not produce enough steroid hormones. Discover the latest research on Addison's disease here.