Endocrinology is the study of glands and the hormones they produce that regulate our bodies. Endocrine glands and hormones have a role in many conditions. We treat both common hormone disorders and complex endocrine conditions.
International Journal of Pediatric Endocrinology. DecemberCite as. Congenital adrenal hyperplasia CAH due to hydroxylase deficiency is the most common cause of primary adrenal insufficiency in children.
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Through a partnership between the Minnesota Department of Health and the 3 largest pediatric endocrinology centers in Minnesota, cases of CAH missed by NBS were identified through review of the NBS registry and the medical records of the participating institutions. Institutional review boards at all sites approved the study with waivers of informed consent. Among the 9 females missed by NBS, 3 had ambiguous genitalia at birth cases 9, 10, and 15 but were not identified until 3. Case 10 had vaginoplasty 6 years before diagnosis.
She is responsible for the national neonatal screening programme for congenital adrenal hyperplasia. Her research is focused on CAH and disorders of sex development. Cognitive and brain imaging studies of individuals exposed to dexamethasone prenatally, with and without CAH is another focus.
Tests to diagnose CAH in fetuses can be done when siblings have the disease or family members are known to carry the gene defect. One of these tests may be done :. All newborns in the United States are screened for classic CAH caused by genetic hydroxylase deficiency during the first few days of life.
Skip to search form Skip to main content. Impact of hydrocortisone on adult height in congenital adrenal hyperplasia-the Minnesota cohort. Turcotte and Noelle Otten and Andrea C.
Associate ProfessorDepartment of Pediatrics. Faculty MemberDivision of Pediatric Endocrinology. Faculty MemberDivision of Genetics and Metabolism.
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