Results 111 to 120 of about 32,077 (214)
A case is described of a three-day-old female with salt wasting type of 21-hydroxylase deficient congenital adrenal hyperplasia who presented with acanthosis nigricans of both axillae.
Selim Kurtoğlu +3 more
doaj
Disorders of sex development (DSD): an overview of recent scientific advances [PDF]
Developments in biotechnology have radically altered clinical and research themes in the small field of disorders of sex development, as in other rare medical conditions. In the age of genetics, an increasing number of DSDs have been identified. Aided by
Conway, GS
core
CLINICAL PROFILE OF PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA DUE TO 21 HYDROXYLASE DEFIICIENCY
Introduction: 21 Hydroxylase deficiency is the most common enzymatic deficiency seen in XX-DSDs. 11-deoxycorticosterone and 11-deoxycortisol are deficient in the most-severe, “salt-wasting” form of this disease.
Sheeraz A Dar +7 more
doaj
Amenorrhea Due to Defects in Steroid Biosynthesis [PDF]
Amenorrhea as the first manifestation of a steroid biosynthetic defect is rather unusual. The common forms of congenital adrenal hyperplasia are classic examples of steroid biosynthetic defects.
Mathur, Rajesh S., Williamson, H. Oliver
core +1 more source
Glucocorticoid-prescribing trends in congenital adrenal hyperplasia, 2017 to 2023. [PDF]
Roxas A +70 more
europepmc +1 more source
Current insights into monitoring of congenital adrenal hyperplasia. [PDF]
Leusink QM +9 more
europepmc +1 more source
Robinow Syndrome Mimicking Congenital Adrenal Hyperplasia. [PDF]
Sridharan A +3 more
europepmc +1 more source
Reduced cortical thickness in individuals with congenital adrenal hyperplasia (CAH). [PDF]
Luders E +7 more
europepmc +1 more source
Unveiling Salt-Wasting Congenital Adrenal Hyperplasia in an Infant: A Diagnostic Challenge. [PDF]
Kummari S, Krishna Sravya M, R M.
europepmc +1 more source

