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[Congenital adrenal hyperplasia]. [PDF]

Probl Endokrinol (Mosk)
Congenital adrenal hyperplasia (CAH) is a rare disorder that typically presents in childhood. Affected female infants are most often discovered at birth due to virilized external genitalia, while male infants are diagnosed after newborn screening or, when none is available, during adrenal crisis. CAH is an autosomal recessive disorder with
Vorontsova MV, Kokorina TS, Nuralieva NF, Yukina MY, Troshina EA, Melnichenko GA, Mokrysheva NG.   +6 more
europepmc   +5 more sources

Congenital adrenal hyperplasia with associated giant adrenal myelolipoma, testicular adrenal rest tumors and primary pigmented nodular adrenocortical disease: A case report and brief review of the literature

Radiology Case Reports, 2022
Congenital adrenal hyperplasia is an autosomal recessive disease most commonly associated with 21-hydroxylase deficiency, an enzyme integral in the biosynthesis of mineralocorticoids and glucocorticoids.
Aaron Jacobson, DO, M. Eng., Elaine Koberlein, BS, Alan Thomay, MD, Cara B Lombard, MD, Ayodele Adelanwa, MD, Dhairya A Lakhani, MD, Kelly T. Smith, MD, MS   +6 more
doaj   +1 more source

Acute Gastroenteritis Induced Adrenal Crisis in a patient with Congenital Adrenal Hyperplasia: A Case Report

Journal of Nepal Medical Association, 2023
Congenital Adrenal Hyperplasia is a group of autosomal recessive diseases due to deficiencies of enzymes involved in steroidogenesis. If not diagnosed and treated adequately, Congenital Adrenal Hyperplasia can lead to an acute adrenal crisis with ...
Nibedita Chapagain, Aayam Adhikari, Nishob Adhikari, Santosh Paudel, Deependra Mandal   +4 more
doaj   +1 more source

Congenital adrenal hyperplasia [PDF]

Dermato-Endocrinology, 2009
Congenital adrenal hyperplasia consists of a heterogenous group of inherited disorders due to enzymatic defects in the biosynthetic pathway of cortisol and/or aldosterone. This results in glucocorticoid deficiency, mineralocorticoid deficiency, and androgen excess. 95% of CAH cases are due to 21-hydroxylase deficiency.
Dessinioti, Cleo, Katsambas, Andreas
openaire   +2 more sources

11β Hydroxylase Deficiency in a Child with Hypothyroidism: A Case Report

Journal of Nepal Medical Association, 2023
Congenital adrenal hyperplasia occurs due to enzymatic defects in the adrenocortical steroidogenesis. 11β hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia which presents with hypertension and features of androgen ...
Bipesh Kumar Shah, Richa Koirala, Sumit Dhamala, Mukesh Bhatta, Shekhar Khatiwada   +4 more
doaj   +1 more source

Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia in Egypt [PDF]

Annals of Neonatology Journal, 2023
Two disorders, congenital adrenal hyperplasia (CAH) and congenital hypothyroidism (CH), when untreated, can lead to devastating, irreversible and fatal outcomes.
Noura El-Bakry
doaj   +1 more source

Diagnosis and Management of Adrenal Crisis in 46XX Congenital Adrenal Hyperplasia Infant

Folia Medica Indonesiana, 2022
Highlight: • The diagnosis and therapy of Congenital Adrenal Hyperplasia (CAH) children with Adrenal crisis (AC) case report. • Adrenal crisis (AC) is a life-threatening emergency that contributes to the high death rate of children with adrenal ...
Nur Rochmah, Muhammad Faizi, Neurinda Permata Kusumastuti, Leonardo Ferryanto Mak Samadhi, Wika Yuli Deakandi   +4 more
doaj   +1 more source

Congenital Adrenal Hyperplasia [PDF]

Journal of Pediatric and Adolescent Gynecology, 2017
The congenital adrenal hyperplasias comprise a family of autosomal recessive disorders that disrupt adrenal steroidogenesis. The most common form is due to 21-hydroxylase deficiency associated with mutations in the 21-hydroxylase gene, which is located at chromosome 6p21.
Diala, El-Maouche, Wiebke, Arlt, Deborah P, Merke   +2 more
openaire   +5 more sources

Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report

Journal of Nepal Medical Association, 2020
Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders due to deficiencies of enzymes involved in steroidogenesis. The most common form is a 21-hydroxylase deficiency which can be classical or non-classical.
Deependra Mandal, Deepa Khanal, Rajan Phuyal, Uttara Adhikari   +3 more
doaj   +1 more source

NEUROBLASTOMA IN A CASE OF CONGENITAL ADRENAL HYPERPLASIA

Hematology, Transfusion and Cell Therapy, 2021
Case report: The majority of neuroblastomas are sporadic and not correlated with any specific constitutional germline chromosomal abnormality, inherited predisposition, or associated congenital anomalies.
Arzu Yazal Erdem, Sonay İncesoy Özdemir, Meriç Kamak Cihan, Derya Özyörük, Neriman Sarı, İnci Ergürhan İlhan   +5 more
doaj   +1 more source