Polycystic ovary syndrome is the most common cause of hyperandrogenism in young females. Other causes are congenital adrenal hyperplasia (CAH), androgen-producing tumours and drugs. The severity and tempo of virilisation help in distinguishing the tumoural from non-tumoural causes. We report a rare case of non-classic CAH and androgen-producing ovarian tumour in the same patient, causing hyperandrogenism. A 15-year-old female patient presented with secondary amenorrhea, excessive facial hair growth and clitoromegaly for 6 months. Due to severe virilisation, tumoural aetiology was considered. Investigations showed marked elevation of testosterone and mild elevation of 17 hydroxy progesterone (17OHP). Imaging confirmed right ovarian tumour. Adrenocorticotropic hormone stimulated 17OHP, was elevated confirming the diagnosis of underlying non-classic CAH. Surgical removal of the tumour was followed by improvement in hyperandrogenism, but persistent elevation of 17OHP confirmed the underlying presence of non-classic CAH.
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http://dx.doi.org/10.1136/bcr-2019-230691 | DOI Listing |
J Clin Res Pediatr Endocrinol
January 2025
Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. More than 95% of the cases occur as a result of defects in the gene encoding 21-hydroxylase (). 21-hydroxylase deficiency has been divided into classical and non-classical forms.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
December 2024
Department of Endocrinology, Centre of Postgraduate Medical Education, Warsaw, Poland.
In adrenal steroidogenesis, 17-hydroxyprogesterone (17-OHP) is a substrate for 21-hydroxylase, one of the crucial enzymes of the cortisol and aldosterone biosynthesis pathway. Thus, measurement serum 17-OHP concentration is used when the diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is suspected. In the classic 21-hydroxylase deficiency, randomly timed measurements of 17-OHP are generally significantly elevated using different immunoassays.
View Article and Find Full Text PDFHorm Res Paediatr
November 2024
Department of Pediatrics, Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
Introduction: Congenital adrenal hyperplasia (CAH) is characterized by a broad spectrum of symptoms. This study aimed to describe genotype-phenotype correlations, clinical manifestations at diagnosis, and the frequency of feminizing surgery in childhood.
Methods: A nationwide retrospective cohort study of patients diagnosed with CAH, at the age of ≤18 years, between 1943 and 2018.
J Clin Endocrinol Metab
November 2024
Division of Pediatric Endocrinology, University of Minnesota Medical School, Minneapolis, MN.
Background: Hyperandrogenemia resulting in estrogen-mediated accelerated bone maturation and early growth plate fusion contributes to short stature in children with congenital adrenal hyperplasia (CAH) due to 21OHD. Aromatase inhibitors block androgen conversion to estrogen and have been used off-label in children with short stature to improve adult height. There are no adequately powered studies examining the use of aromatase inhibitors in children with CAH with advanced bone age and reduced predicted adult height.
View Article and Find Full Text PDFCurr Issues Mol Biol
September 2024
Division of Endocrinology, Diabetes and Metabolism 'Aghia Sophia' Children's Hospital ENDO-ERN Center for Rare Paediatric Endocrine Diseases, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece.
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