Results 91 to 100 of about 19,833 (220)
Clinical Challenges in Transition to Adult Care for Young People With Endocrinopathies
Clinical Endocrinology, Volume 105, Issue 1, Page 14-21, July 2026.ABSTRACT The complexity of transition of pediatric patients to adult care is well recognized, with a multidisciplinary approach widely agreed to be essential. Despite extensive existing literature in this area, practical guidance as to the management of specific medical aspects and how to address these with patients and families is lacking, with little
Margaret Zacharin, Quynh‐Nhu Nguyen
wiley +1 more source
Congenital adrenal hyperplasia: Diagnostic advances [PDF]
, 2018 Summary: Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex.
Biason-Lauber, Anna, Torresani, T.
core
TG Nonsense Variant in Dwarf Rottweiler Dogs
Animal Genetics, Volume 57, Issue 3, June 2026.ABSTRACT We identified a dwarfism syndrome in six Rottweiler dogs characterized by reduced height and body weight; limb deformities, shortening of the tail and abnormally thick skin in puppies; developmental delays, pain and non‐goitrous hypothyroidism. Histological examination of the thyroid gland revealed severe chronic diffuse bilateral atrophy with
Marie Abitbol +10 more
wiley +1 more source
Patient and Parent Perspectives on Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia
, 2023 Background: Testicular adrenal rest tumors (TARTs) increase the risk of infertility in males with classic congenital adrenal hyperplasia (CAH). There is no consensus regarding at what age screening testicular ultrasounds should begin and how often they ...
Kokorowski, Paul J. +6 more
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American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson +1 more
wiley +1 more source
Disorders of sex development (DSD): an overview of recent scientific advances
, 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
Monitoring of Therapy in Congenital Adrenal Hyperplasia
, 2010 BACKGROUND Congenital adrenal hyperplasia is a group of disorders caused by defects in the adrenal steroidogenic pathways.
Joseph A Majzoub +2 more
core +1 more source
Analytical Science Advances, Volume 7, Issue 1, June 2026.ABSTRACT Steroids are critical for numerous physiological processes; disruption in their metabolism is associated with numerous endocrine disorders. Steroid quantification is essential to improve the understanding and diagnosis of these pathologies. Historically, urinary steroid profiling has been performed using low‐throughput gas chromatography mass ...
Joshua T. Bain +4 more
wiley +1 more source
Journal of Medical Case Reports, 2013 Introduction We report the case of a patient with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency who presented with unusual anatomical and biochemical features, namely massively enlarged adrenal glands, adrenogenital rest ...
Ferreira Florbela +5 more
doaj +1 more source