Results 51 to 60 of about 401,716 (213)

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

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

, 2002
Patients presenting with ambiguous genitalia (AG) often pose a dilemma to the attending clinicians with regard to sex ...
Muhamad, Y.K., Adam, N., Ramli, S.F., Rus Anida, A., Sidek, M.Ros, Fuziah, M.Z., Isa, M.N.   +6 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

Contribution of the adrenal gland to the production of androstenedione and testosterone during the first two years of life [PDF]

, 1986
Androstenedione and testosterone were measured in whole adrenal glands of 56 previously healthy boys who died suddenly between birth and 2 yr of age. In each adrenal gland, the concentration of androstenedione considerably exceeded that of testosterone ...
Eisenmenger, Wolfgang, Dörr, H. G., Bidlingmaier, F., Kuhnle, U., Knorr, D.   +4 more
core   +1 more source

Clinical Application of Steroid Profiles and Their Interpretation in Adrenal Disorders

Diagnostics
Serum and urinary steroid profiles are altered in hormone-producing adrenal adenomas, Cushing’s or Conn’s syndrome, or adrenocortical carcinoma. Definitive diagnosis of inherited congenital adrenal hyperplasia is usually accomplished by measuring the ...
Indra Ramasamy
doaj   +1 more source

Association Between FTO rs1558902 Polymorphism, Age‐Related Hypogonadism, and Central Obesity in Japanese Men

Andrology, EarlyView.
ABSTRACT Background Obesity and low testosterone levels are closely interconnected, with the FTO gene being the most robust genetic determinant of body mass index (BMI). However, whether this primary genetic driver of obesity directly influences the hypothalamic‐pituitary‐testicular (HPT) axis remains unclear.
Takahiro Tsutsumi, Hideyuki Okuma, Fuminori Kazama, Masumi Endo, Yuna Takato, Hitomi Nara, Asako Miyazaki, Nozomi Harai, Kyoichiro Tsuchiya   +8 more
wiley   +1 more source

Neoplastic Risk in Patients With Klinefelter Syndrome

Andrology, EarlyView.
ABSTRACT Background Besides gonadal involvement (hypogonadism, male factor infertility, and testicular hypotrophy), patients with Klinefelter syndrome (KS) may suffer from several extra‐gonadic complications, including neoplastic events. Objective The aim of this review is to summarize all major clinical evidence dealing with the association between KS
Andrea Graziani, Giuseppe Grande, Riccardo Selice, Antonella Di Mambro, Alberto Ferlin   +4 more
wiley   +1 more source

Testicular masses in congenital adrenal hyperplasia: Using 123I-MIBG scintigraphy to support the diagnosis of testicular adrenal rest tumours

, 2020
This case demonstrates the use of 123I-MIBG scintigraphy in the diagnosis of testicular adrenal rest tumours (TART) in an adult with classical congenital adrenal hyperplasia (CAH).
Kwok, Michael, Desai, Devang, Wang, Gary, Hempenstall, Lucy Elizabeth, Gleeson, Jacob, Siriwardana, Amila Rohan   +5 more
core   +1 more source

Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1 [PDF]

, 2002
DAX-1 [dosage-sensitive sex reversal, adrenal hypoplasia congenital (AHC) critical region on the X chromosome, gene 11 is a transcription factor expressed in the adrenal gland and at all levels of the gonadotrope axis.
Gaillard, R.C., Schorderet, D., Schorderet, D, Jameson, J.L., Pralong, F.P., Gaillard, RC, Fiaux, M., Achermann, JC, Salvi, R, Achermann, J.C., Gomez, F, Fiaux, M, Pralong, FP, Jameson, JL, Salvi, R., Gomez, F.   +15 more
core   +1 more source