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Congenital adrenal hyperplasia (CAH) arises from genetic enzyme defects, often in CYP21A2, causing primary adrenal insufficiency. In this case report, a man in his late 20s with lifelong CAH faced challenges in adhering to medication. Suboptimal treatment led to the development of testicular adrenal rest tumours, diagnosed by ultrasound, and hypogonadism.
View Article and Find Full Text PDF[The androgenital syndrome: Don't just think about it in childhood!].
MMW Fortschr Med
February 2024
Mediensprecher, Deutsche Gesellschaft für Endokrinologie, Kraepelinstr. 10, 80804, München, Germany.
The androgenital syndrome: Don't just think about it in childhood!In adrenogenital syndrome, the body permanently produces too many male sex hormones. Rare, congenital metabolic diseases are usually discovered in infancy and can be treated at an early stage treated at an early stage, but sometimes they only become apparent in adolescence and adulthood.This article provides background knowledge for GPs.
View Article and Find Full Text PDFCongenital adrenal hyperplasia. Role of dentist in early diagnosis.
Open Med (Wars)
October 2022
Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy.
Congenital adrenal hyperplasia (CAH) is a genetic disorder characterized by an impairment of steroid synthesis due to an altered production of 21-hydroxylase enzyme. Corticoid hormones are involved in the development and functioning of many organs. The aim of the present study was to review the international literature to collect data regarding oral manifestations of CAH.
View Article and Find Full Text PDFIncidental Finding of Bilateral Ovarian Adrenal Rest Tumor in a Patient With Congenital Adrenal Hyperplasia: A Case Report and Brief Review.
Pediatr Dev Pathol
November 2021
Department of Pathology, Habib Bourguiba University Hospital, Sfax, Tunisia.
Ovarian adrenal rest tumors (OART) are tumors that develop in females with congenital adrenal hyperplasia (CAH). In contrast to their counterpart in testicles, they are exceptional and few cases have been reported in the literature. In this report, we present clinicopathological findings of a female patient with CAH due to 21-hydroxylase deficiency who was incidentally diagnosed with OART with a review of the literature.
View Article and Find Full Text PDFDisorders of Sex Development: Classification, Review, and Impact on Fertility.
J Clin Med
November 2020
Departmentof Gynecology, Miguel Hernández University, San Juan Campus, 03550 San Juan, Alicante, Spain.
In this review, the elements included in both sex determination and sex differentiation are briefly analyzed, exposing the pathophysiological and clinical classification of disorders or anomalies of sex development. Anomalies in sex determination without sex ambiguity include gonadal dysgenesis, polysomies, male XX, and Klinefelter syndrome (dysgenesis and polysomies with a female phenotype; and sex reversal and Klinefelter with a male phenotype). Other infertility situations could also be included here as minor degrees of dysgenesis.
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