Results 61 to 70 of about 19,833 (220)

Molecular Analysis In The Management Of Congenital Adrenal Hyperplasia (CAH) And Ambiguous Genitalia. [PDF]

open access: yes, 2002
Patients presenting with ambiguous genitalia (AG) often pose a dilemma to the attending clinicians with regard to sex ...
Muhamad, Y.K.   +6 more
core  

Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

open access: yesBiology of Sex Differences, 2011
Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common presentation of a disorder of sex development (DSD) in genetic females. A report of prenatal growth retardation in cases of 46,XY DSD, coupled with observations
Chalmers Laura J   +5 more
doaj   +1 more source

GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report

open access: yesBMC Pediatrics, 2022
Background Primary adrenal insufficiency in children has non-specific and extensive clinical features, so the diagnosis of its etiology is complex and challenging.
Yajie Tong   +3 more
doaj   +1 more source

Biomarkers in congenital adrenal hyperplasia

open access: yesClinical Endocrinology, 2023
AbstractMonitoring of hormone replacement therapy represents a major challenge in the management of congenital adrenal hyperplasia (CAH). In the absence of clear guidance and standardised monitoring strategies, there is no consensus among clinicians regarding the relevance of various biochemical markers used in practice, leading to wide variability in ...
Bacila, I.   +4 more
openaire   +3 more sources

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

open access: yesActa Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg   +9 more
wiley   +1 more source

The Relationship Between Polycystic Ovary Syndrome (PCOS) and Depression

open access: yesClinical Endocrinology, EarlyView.
ABSTRACT Objective Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder, frequently accompanied by psychological comorbidities including depression. The aim of this narrative review is to summarise the latest research regarding potential contributors to and underpinning mechanisms of this relationship.
Asimina I. Karampela, Maralyn Druce
wiley   +1 more source

Clonal Composition of Human Adrenocortical Neoplasms [PDF]

open access: yes, 1994
The mechanisms of tumorigenesis of adrenocortical neoplasms are still not understood. Tumor formation may be the result of spontaneous transformation of adrenocortical cells by somatic mutations.
Travis, W.   +7 more
core  

Physiological Basis of Sex Differences in Human Performance and Exercise‐Associated Pathology

open access: yesClinical Endocrinology, EarlyView.
ABSTRACT The presence of sex differences in human physical performance is well‐established and shaped by distinct endocrine, anatomical and physiological mechanisms. Despite sustained advances, our understanding of how inherent biological factors drive variations in exercise capacity and related pathologies is still developing.
David A. Holdsworth   +7 more
wiley   +1 more source

Obesity in Classic Congenital Adrenal Hyperplasia: Mechanisms, Complications and Management

open access: yesClinical Endocrinology, EarlyView.
ABSTRACT Classic congenital adrenal hyperplasia (CCAH) is an autosomal recessive genetic disorder primarily caused by 21‐hydroxylase deficiency. Although the survival rate of patients has significantly improved with glucocorticoid replacement therapy, long‐term use of supraphysiological doses and multiple factors inherent to the disease itself have led
Jialin Mu   +5 more
wiley   +1 more source

Adrenal Tumor Mimicking Non-Classic Congenital Adrenal Hyperplasia

open access: yesFrontiers in Endocrinology, 2020
Elevated 17-hydroxyprogesterone may be caused by congenital adrenal hyperplasia, ovarian or adrenal tumors. A positive cosyntropin stimulation test result for 17-hydroxyprogesterone may be found in functional or non-functional tumors and be related to ...
Wen-Hsuan Tsai   +5 more
doaj   +1 more source

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