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Drugs in pregnancy and lactation
Published in Evelyne Jacqz-Aigrain, Imti Choonara, Paediatric Clinical Pharmacology, 2021
Evelyne Jacqz-Aigrain, Imti Choonara
The prenatal treatment of congenital adrenal hyperplasia due to 21 hydroxylase deficiency is instituted with the aim of preventing the in utero virilisation of CAH-affected female fetuses, which is caused by overproduction of adrenal androgens.
Expanded Newborn Screening and Phenylketonuria (PKU)
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
The addition of hypothyroidism to newborn screening using the same filter paper blood spot used for PKU began in the 1970s (5). Testing for sickle cell disease and other hemoglobinopathies soon followed. Gradually, screening has come to all of the states in this nation and in several countries worldwide and includes other diseases such as galactosemia, other amino acid disorders, congenital adrenal hyperplasia due to 21-hydroxylase deficiency, and cystic fibrosis. Because, as noted below, there are no national standards in the United States, each state determines which tests will be done and only PKU and congenital hypothyroidism are tested for in every state.
A Two-in-One Tumor in the Adrenal: A Functional Adrenocortical Adenoma with Myelolipomatous Differentiation
Published in Fetal and Pediatric Pathology, 2023
Sunny Bhardwaj, Rohit Sanjay Deshpande, Santosh Kumar, Suvradeep Mitra
Sixty-five percent of the myelolipomatous metaplasia occurred in the setting of an ADA (n = 13). Other ADTs (adrenocortical tumor of uncertain malignant potential; n = 2, adrenocortical carcinoma; n = 1), adrenal hyperplasia (n = 2), and occasionally other tumors (cavernous hemangioma; n = 1, and oncocytoma; n = 1) can show myelolipomatous metaplasia. The adrenocortical carcinoma with myelolipomatous metaplasia was nonfunctioning and occurred in a retroperitoneal (ectopic) adrenal rest [2]. The presence of concurrent endothelial cyst (n = 2) (one case with renal cell carcinoma of the contralateral side), schwannoma (n = 1), epithelioid angiosarcoma (n = 1), and pancreatic cyst (n = 1) had myelolipomatous metaplasia. The cases of ADA with myelolipomatous metaplasia (n = 13) were nonfunctional/incidental in large majority of cases. Four cases were associated with Cushing syndrome, whereas two cases showed only hypertension [1,3,4]. One case of ADA with myelolipomatous metaplasia occurred in a patient with congenital adrenal hyperplasia due to 21-hydroxylase deficiency [5]. Myelolipoma can be associated with hypertension due to the increased secretion of catecholamines in a few cases [3].