Results 11 to 20 of about 41,875 (218)

Silent Threat: A Complex Presentation of Testicular Adrenal Rest Tumors in a Male With Congenital Adrenal Hyperplasia [PDF]

Clin Case Rep
ABSTRACT Congenital adrenal hyperplasia (CAH) with testicular adrenal rest tumor (TART) is a sequela of 21‐hydroxylase deficiency in the background of adrenal hyperplasia in most cases. We report a case of a 10‐year‐old boy who presented with a 7‐day history of headache, vomiting, and abdominal pain, and had a blood pressure of 200/140 mmHg with a ...
Gupta S, Neupane A, Parajuli K, Bhagat S, Timsina N, Gupta R.   +5 more
europepmc   +4 more sources

Long-Term Outcomes of Congenital Adrenal Hyperplasia

Endocrinology and Metabolism, 2022
A plethora of negative long-term outcomes have been associated with congenital adrenal hyperplasia (CAH). The causes are multiple and involve supra-physiological gluco- and mineralocorticoid replacement, excess adrenal androgens both intrauterine and ...
A. Nordenström, S. Lajic, H. Falhammar
semanticscholar   +1 more source

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

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

Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia

Journal of Clinical Endocrinology and Metabolism, 2021
Context Standard glucocorticoid therapy in congenital adrenal hyperplasia (CAH) regularly fails to control androgen excess, causing glucocorticoid overexposure and poor health outcomes.
Merke Dp, M. A, A. W, B. a, Linden Hirschberg A, Juul A, N. J., Perry Cg, Prete A, Rees Da, Reisch N, Stikkelbroeck N, Touraine P, Maltby K, T. Fp, P. J, Rosser Rj   +16 more
semanticscholar   +1 more source

Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY

Frontiers in Genetics, 2022
Congenital adrenal hyperplasia is a group of autosomal recessive disorders in which enzymes in the cortisol biosynthesis pathways are disrupted by gene mutations. The most common form of congenital adrenal hyperplasia, caused by 21-hydroxylase deficiency,
Sophia Q. Song, Andrea Gropman, Andrea Gropman, Robert W. Benjamin, Francie Mitchell, Michaela R. Brooks, Mary P. Hamzik, Kira Sampson, Ritika Kommareddi, Teresa Sadeghin, Carole A. Samango-Sprouse, Carole A. Samango-Sprouse, Carole A. Samango-Sprouse   +12 more
doaj   +1 more source

Clinical advances in the pharmacotherapy of congenital adrenal hyperplasia

European Journal of Endocrinology, 2021
Background Patients with 21-hydroxylase deficiency congenital adrenal hyperplasia (21OHD-CAH) have poor health outcomes with increased mortality, short stature, impaired fertility, and increased cardiovascular risk factors such as obesity.
A. Prete, R. Auchus, R. Ross
semanticscholar   +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

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

SEVERE METABOLIC DISORDER – CAUSE OF DEATH AT A NEWBORN SUFFERING FROM CHRONIC CONDITION [PDF]

Romanian Journal of Pediatrics, 2017
Congenital adrenal hyperplasia is an autosomal recessive disorder of adrenal steroid biosynthesis, children born from consanguinity relationships have the highest burden of disease.
Roxana Tanase, Alina Stoicescu, Elena Georgescu, Carmen Pascu, Serban Rogoz, Oana Falup-Pecurariu   +5 more
doaj   +1 more source