Results 31 to 40 of about 19,833 (220)

Congenital Adrenal Hyperplasia

Annals of Saudi Medicine, 1991
The incidence of congenital adrenal hyperplasia in Saudi Arabia and the frequency of the carrier rate are not well known. Both figures should be high, considering the commonness of first-degree consanguinity in this part of the world. We present 25 cases of congenital adrenal hyperplasia, most of them due to a defect of the 21 hydroxylase enzyme ...
H, Salman, A, Abanamy, B, Ghassan, M, Khalil   +3 more
openaire   +2 more sources

Reconstructive plastic surgery for congenital adrenal hyperplasia in girl [PDF]

Ķazaķstannyṇ Klinikalyķ Medicinasy, 2016
Congenital adrenal hyperplasia - congenital disease the cause of which is a genetic defect in the enzymes involved in the synthesis of corticosteroids, and transport proteins leading to hyperandrogenism and is accompanied by abnormalities of internal and
Daulet Zharassov
doaj   +1 more source

Growth Characteristics in Children with Congenital Adrenal Hyperplasia Visiting Tertiary Care Hospital, Karachi

Pakistan Armed Forces Medical Journal, 2023
Objective: To determine the growth characteristics in children with congenital adrenal hyperplasia visiting tertiary care hospital Karachi. Study Design: Cross-Sectional study.
Abdul Qayyum, Versha Rani Rai, Roshia Memom, Shazia Mahar, Taj Muhammad Laghari, Mohsina Noor Ibrahim   +5 more
doaj   +1 more source

Cortisol and 17-hydroxyprogesterone levels in saliva of healthy neonates - Normative data and relation to body mass index, arterial cord blood pH and time of sampling after birth [PDF]

, 2000
The measurement of cortisol and 17-hydroxyprogesterone (17-OHP) in saliva has become a reliable tool for both the scientist and the clinician for studying adrenal cortical function in the adult and the older child.
Meyer, Kerstin, Reich, Andrea, Kratzsch, Jürgen, Müller, Grit, Dressendörfer, Regina, Reiter, Hans-Ludwig, Klug, Ingo, Kühl, Gonne Peter, Kiess, Wieland, Strasburger, Christian   +9 more
core   +1 more source

A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of swiss ancestry with congenital lipoid adrenal hyperplasia

, 2005
Context: Lipoid congenital adrenal hyperplasia (CAH) is the most severe form of CAH leading to impaired production of all adrenal and gonadal steroids.
Maret, A, Achermann, J. C., Mullis, PE, Morel, Y., Leheup, B, Flück, Christa E., Portrat-Doyen, Stéphanie, Leheup, B., Achermann, JC, Mallet, D, Fluck, CE, Mullis, Primus-Eugen, Fluck, C. E., Maret, A., Morel, Yves, Mullis, P. E., Theintz, Gérald E., Portrat-Doyen, S., Theintz, GE, Leheup, Bruno, Mallet, D., Achermann, John C., Theintz, G. E., Morel, Y, Portrat-Doyen, S, Maret, Alexander, Mallet, Delphine   +26 more
core   +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

Congenital lipoid adrenal hyperplasia: Immunohistochemical study of testosterone synthesis in Leydig cells

IJU Case Reports, 2020
Introduction Congenital lipoid adrenal hyperplasia is a rare disease that causes disorders of sex development. The 46,XY patient presents with female external genitalia and inguinal testes. We describe the case of a patient with congenital lipoid adrenal
Kanako Matsuoka, Yuichi Sato, Seiji Hoshi, Tomoyuki Koguchi, Soichiro Ogawa, Tomohiro Ishii, Nobuhiro Haga, Tomonobu Hasegawa, Yoshiyuki Kojima   +8 more
doaj   +1 more source

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

, 2009
Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex.
Racine, M, Naville, D., Nurnberg, G., Green, J, Metherell, L. A., Nurnberg, P, Krone, NP, Krone, N. P., Arlt, W, Tomlinson, Jeremy, Achermann, JC, Halaby, G, Tomlinson, J. W., Clark, A. J. L., Krone, Nils, Naville, D, Berney, D. M., Begeot, M., Huebner, A., Halaby, G., Green, J., Berney, DM, Clark, AJ, Lin, L, Lin, L., Racine, M., Arlt, Wiebke, Achermann, J. C., Arlt, W., Nurnberg, G, Metherell, LA, Tomlinson, JW, Begeot, M, Huebner, A, Nurnberg, P., Clark, AJL   +35 more
core   +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

Genetics of congenital adrenal hyperplasia [PDF]

Best Practice & Research Clinical Endocrinology & Metabolism, 2009
Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the deficiency of one of four steroidogenic enzymes involved in cortisol biosynthesis or in the electron donor enzyme P450 oxidoreductase (POR) that serves as electron donor to steroidogenic ...
Nils, Krone, Wiebke, Arlt
openaire   +2 more sources