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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
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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 +5 more
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Congenital adrenal hyperplasia
Medicine, 2013 Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of adrenal steroid biosynthesis affecting 1/10,000 to 1/15,000 live births. The most common form is 21-hydroxylase deficiency due to mutations in the CYP21A2 gene. CAH classically presents at birth with ambiguous genitalia in an affected female.
Helen Simpson +3 more
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NonClassic Congenital Adrenal Hyperplasia [PDF]
International Journal of Pediatric Endocrinology, 2010 Nonclassic congenital adrenal hyperplasia (NCAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias ...
Selma F. Witchel +2 more
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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 +8 more
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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
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Congenital Adrenal Hyperplasia (CAH) - Causes, Diagnosis, Symptoms, Treatment
Quality in SportIntroduction and Purpose: Congenital adrenal hyperplasia represents a group of genetic disorders characterized by improper adrenal steroidogenesis, resulting in deficiency or absence of cortisol and/or aldosterone, and varying degrees of disturbances in ...
Oskar Targoński +9 more
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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 +5 more
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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 ...
Mohammed N.A. Khalil +3 more
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CONGENITAL ADRENAL CORTEX HYPERPLASIA IN A NEWBORN (CLINICAL CASE)
Неонатологія, хірургія та перинатальна медицина, 2019 Congenital adrenal cortex hyperplasia combines a group of monogenic diseases with an autosomal recessive fashion based on defects in enzymes or transport proteins involved in adrenal steroidogenesis.
N.M. Kretsu +3 more
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