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Variation of sex differentiation
Published in Joseph S. Sanfilippo, Eduardo Lara-Torre, Veronica Gomez-Lobo, Sanfilippo's Textbook of Pediatric and Adolescent GynecologySecond Edition, 2019
Anne-Marie Amies Oelschlager, Margarett Shnorhavorian
11β-Hydroxylase deficiency is caused by a mutation in the CYP11B1 gene, which results in increased 11-deoxycortisol and mild elevation in 17-OHP. Presenting 46,XX infants may have mild virilization and later may develop hypertension and hypokalemia.
Developmental abnormalities of the genitalia: intersex, hypospadias, and cryptorchidism
Published in J Kellogg Parsons, E James Wright, The Brady Urology Manual, 2019
11β-hydroxylase deficiency: <5% of CAHNot salt wasting (i.e. no mineralocorticoid deficiency)Presentation: hypertension, hyperpigmentation, virilization (and precocious puberty in males)Diagnosis: will have elevated serum levels of 11-deoxycortisol and 11-deoxycorticosterone.
Disorders of sexual differentiation
Published in Brice Antao, S Irish Michael, Anthony Lander, S Rothenberg MD Steven, Succeeding in Paediatric Surgery Examinations, 2017
Sarah M Lambert, Howard M Snyder III
From the list of options above, choose which is the most appropriate test or tests in each of the clinical scenarios. Each option may be used once, more than once, or not at all. A child with 11β-hydroxylase deficiency can be differentiated from other forms of CAH because of elevated levels of this substance.The evaluation of a teenage girl with primary amenorrhoea and normal external genitalia should include which of the above tests?Which of the above tests can be performed to confirm a vanishing testis in a boy with a unilateral non-palpable testis?
Cardiometabolic risk factors in women with non-classic congenital adrenal hyperplasia
Published in Acta Cardiologica, 2020
Robert Krysiak, Karolina Kowalcze, Bogdan Marek, Bogusław Okopień
Some study limitations should be noted. Firstly, because of a small number of patients, the obtained results should be confirmed in a large multi-center study. Secondly, there are controversies concerning cut-off values for 17-hydroxyprogesterone after cosyntropin stimulation. The value used in our study and fact that the test was performed in the early follicular phase were based on the Endocrine Society guidelines [30]. However, there are authors who use stimulated cut-off value of 15 ng/mL, performing this test at any time of day and at any time during the menstrual cycle [3]. Thirdly, the study measured only surrogates, which cannot be easily translated to hard endpoints. Finally, we did not perform a urine steroid profile which can differentiate 21-hydroxylase deficiency from less frequent forms of CAH (11β-hydroxylase deficiency and 17-hydroxylase deficiency).
Association of aldosterone synthase CYP11B2 (-344C/T) gene polymorphism with essential hypertension and left ventricular hypertrophy in the Egyptian population
Published in Clinical and Experimental Hypertension, 2019
Functional studies explain this association by the lower binding affinity of −344 T allele to steroidogenic factor (SF-1). This prevents the enzyme transcription inhibition by SF-1 leading to increased aldosterone synthase activity (26). Also, it increases SF-1 factor availability in other parts of the gene that leads to transcriptional activation of the steroidogenic acute regulatory gene which stimulates aldosterone synthase gene transcription (8). Others suggest that CYP11B2 polymorphisms are in strong linkage disequilibrium with functional polymorphisms in CYP11B1; a T to C substitution in codon 75 and a G to A substitution in intron 6 and that leads to 11 β hydroxylase deficiency (28) with a sustained mild increase in ACTH drive to the adrenal cortex to maintain normal plasma cortisol levels (29). Accordingly, ACTH stimulates aldosterone synthesis via enhancing the expression of a number of genes required for aldosterone synthesis, including StAR, CYP11A, and CYP21 resulting in hypertension with a raised ARR (29,30).
Long-term follow-up of a female patient with non-classical 11β-hydroxylase deficiency and two novel mutations in CYP11B1
Published in Gynecological Endocrinology, 2019
Sabina Zacharieva, Ralitsa Robeva, Silvia Andonova, Radoslava Vazharova, Lubomir Balabanski, Maya Atanasoska, Draga Toncheva, Atanaska Elenkova, Alexey Savov
Herein, we present a case of a genetically confirmed 11β-hydroxylase deficiency in the adulthood—a female patient with infertility who has been followed-up from her first pregnancy to her early menopause. Emerging questions concerning the clinical management are also briefly discussed.