Results 41 to 50 of about 19,833 (220)

Demographic Characteristics and Clinical Findings in Patients with Congenital Adrenal Hyperplasia in Isfahan City, Iran

مجله دانشکده پزشکی اصفهان, 2018
Background: Congenital adrenal hyperplasia is the most common cause of ambiguous genitalia, which can be obscured by ambiguous genitalia, weight loss, and premature pubarche.
Ranasadat Saleh, Mahin Hashemipour
doaj   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

THE 17-HYDROXYPROGESTERONE LEVEL, ANDROSTENEDIONE LEVEL, AND SIDE EFFECTPOST HYDROCORTISONE THERAPY OF CONGENITAL ADRENAL HYPERPLASIA PATIENTS [PDF]

, 2010
Background: Congenital Adrenal Hyperplasia (CAH) is the most common 46,XX DSDs, which occurred when one of the enzymes required for cortisol and aldosterone synthesis in adrenal gland is deficit, therefore performed adrenal hormone imbalance.
Pratami, R. Rizcky Erika
core  

Modern competency‐based teaching of human sexual development

Anatomical Sciences Education, EarlyView.
Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler, Alessandro Bilella, Christian M. Hammer   +2 more
wiley   +1 more source

Non-Virilizing Congenital Adrenal Hyperplasia in a Female Patient with a Novel HSD3B2 Mutation. [PDF]

, 2016
Classic 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD II) deficiency causes congenital adrenal hyperplasia with glucocorticoid, mineralocorticoid, and sex steroid deficiency.
Udhane, Sameer S, Probst-Scheidegger, Ursina, Camats Tarruella, Núria, l'Allemand, Dagmar, Flück, Christa Emma   +4 more
core   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR)

, 2010
Context: Nonclassic congenital lipoid adrenal hyperplasia (lipoid CAH) is a recently recognized disorder caused by mutations in the steroidogenic acute regulatory protein (StAR) that retain partial function.
Miller, W. L., Lang-Muritano, M., Soccio, R. E., Miller, W L, Sahakitrungruang, T, Walker, J. M., Miller, WL, Walker, J M, Achermann, J. C., Achermann, JC, Lang-Muritano, M, Sahakitrungruang, T., Achermann, J C, Walker, JM, Soccio, R E, Soccio, RE   +15 more
core   +1 more source

Subclinical cardiac alterations and cardiometabolic profile in adolescents with newly diagnosed polycystic ovary syndrome: A cross‐sectional comparative echocardiographic study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective While cardiometabolic comorbidities have been well established in adults with polycystic ovary syndrome (PCOS), it remains unclear whether the early signs of cardiovascular morbidity emerge during adolescence. This study aimed to investigate whether metabolic and cardiovascular alterations begin in adolescents with PCOS.
Demet Aygün Ari, Melis Pehlivantürk Kizilkan, Musa Öztürk, İlker Ertuğrul, Hayrettin Hakan Aykan, Tevfik Karagöz, Nuray Kanbur, Orhan Derman, Sinem Akgül   +8 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Erratum: Congenital adrenal hyperplasia: diagnostic advances [PDF]

, 2007
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, Anna Biason‐Lauber, T. Torresani   +3 more
core   +1 more source