Results 111 to 120 of about 32,087 (214)

Detection of the I172N Mutation in Cuban Patients with Congenital Adrenal Hyperplasia due to 21 Hydroxylase Insufficiency

Revista Finlay, 2019
Background: congenital adrenal hyperplasia is the most frequent cause of sexual ambiguity in childhood. Molecular diagnosis is an element to be considered for the management and genetic counseling of patients and relatives at risk. Objective: to identify
Taimí Barrueta Ordóñez, Teresa Collazo Mesa, Paulina Lantigua Cruz, Adrián de Jesús González Navarro, Tania Espinosa Reyes   +4 more
doaj   +2 more sources

Disorders of sex development (DSD): an overview of recent scientific advances [PDF]

, 2014
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  

Acanthosis nigricans in association with congenital adrenal hyperplasia: resolution after treatment. Case report

The Turkish Journal of Pediatrics, 2005
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, M Emre Atabek, Mehmet Keskin, Ozlem Canöz   +3 more
doaj  

CLINICAL PROFILE OF PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA DUE TO 21 HYDROXYLASE DEFIICIENCY

National Journal of Medical Research, 2016
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, Bashir A Charoo, Iqbal A Qzai, Javeed I Bhat, Mushtaq A Sheikh, Ikhlas Ahmad, Wajid Ali Syed, Asif Ahmed   +7 more
doaj  

Amenorrhea Due to Defects in Steroid Biosynthesis [PDF]

, 1975
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

Sexual precocity in a 4 year old boy [PDF]

, 2010
Connell, J.M., Donaldson, M.D.C., Mason, A., McNeill, E., Wallace, A.   +4 more
core   +1 more source

Early Risk Stratification in Non-Classical Congenital Adrenal Hyperplasia Based on Newborn 17-OHP Screening Values, Hormonal Findings, and Genotype. [PDF]

J Clin Med
Munarin J, Tuli G, Pavanello E, De Sanctis L.   +3 more
europepmc   +1 more source

Adult congenital adrenal hyperplasia presenting with severe clitoromegaly and distal vaginal stenosis: A reconstructive surgical case report. [PDF]

Urol Case Rep
Alatawi M, Barry M, Almannie R, Althunayan A, Albassam AA, Aldakhil LO.   +5 more
europepmc   +1 more source

Unveiling Salt-Wasting Congenital Adrenal Hyperplasia in an Infant: A Diagnostic Challenge. [PDF]

Cureus
Kummari S, Krishna Sravya M, R M.
europepmc   +1 more source

Case Report: Compound heterozygous mutation comprising p.Pro31Leu and exons 1-3 ins/del variants in <i>CYP21A2</i> causes non-classical congenital adrenal hyperplasia in a Chinese girl. [PDF]

Front Pediatr
Li N, Lu C, Gu HF, An X.
europepmc   +1 more source