A rare variant of congenital adrenal cortical dysfunction in a woman with identified rudimentary prostate tissue


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Abstract

Congenital adrenal cortical dysfunction (CACD) is a group of diseases transmitted in an autosomal recessive pattern, which is based on a defect in steroidogenenic enzymes. In most cases, the development of pathology is caused by mutations in the CYP21 gene that encodes the enzyme 21-hydroxylase. The paper describes a clinical case of a 46,XXpatient with the salt wasting (classical) form of CACD. It discusses the course of the disease, mainly due to the consequence of parental will. The presence of prostate tissue revealed during the patient’s examination led to an erroneous interpretation of the diagnosis by a private clinic specialist and to discontinuation of replacement therapy. This situation could have ended fatally, with the development of an Addisonian crisis. The cases showing the presence of prostate tissue in patients with adrenogenital syndrome are extremely rare. Only a few articles documenting this condition have been published in the world medical literature. Unfortunately, there is always cancer alertness when detecting rudimentary prostatic tissue in women, since androgens act as a trigger for dysplastic processes. There are no case reports on the reduction of the hyperplastic paraurethral gland during intensified glucocorticoid replacement therapy and achieved compensation for CACD; however, there is a high probability that the proliferative processes in the paraurethral gland may slow down when the target levels of androgens achieved. Conclusion. The complexity of the clinical picture of the disease, as well as disorders of adrenal steroidogenesis, which require lifelong replacement therapy, determine the importance of following up patients with CACD and selecting the optimal therapy regimen, especially by taking into account the magnitude of hormonal changes, lifestyle, and the presence of complications.

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About the authors

I. Yu Pronina

National Medical Research Center for Endocrinology, Ministry of Health of Russia; National Medical Research Center for Children's Health, Ministry of Health of Russia

Email: krapchatovaiv@yandex.ru
endocrinologist, National Medical Research Center of Endocrinology, Ministry of Health of Russia; researcher of the Department of preventive pediatrics, dietologist, National Medical Research Center of Children’s Health, Ministry of Health of Russia 117036, Russia, Moscow, Dmitry Ulyanov str., 11; 119991, Russia, Moscow, Lomonosov Ave., 2-1

N. V Molashenko

National Medical Research Center for Endocrinology, Ministry of Health of Russia

Email: molashenko@mail.ru
MD, PhD, Leading Researcher of the Department of Therapeutic Endocrinology 117036, Russia, Moscow, Dmitry Ulyanov str., 11

D. M Babaeva

National Medical Research Center for Endocrinology, Ministry of Health of Russia

Email: dianababaeva1@yandex.ru
radiologist 117036, Russia, Moscow, Dmitry Ulyanov str., 11

Zh. A Uzhegova

National Medical Research Center for Endocrinology, Ministry of Health of Russia

Email: joanna4@yandex.ru
gynecologist, endocrinologist, researcher of the Department of Endocrine Gynecology 117036, Russia, Moscow, Dmitry Ulyanov str., 11

E. A Troshina

National Medical Research Center for Endocrinology, Ministry of Health of Russia

Email: troshina@inbox.ru
Dr. Med. Sci., Professor, Corresponding Member of the RAS, Head of the Department of Therapeutic Endocrinology 117036, Russia, Moscow, Dmitry Ulyanov str., 11

E. N Andreeva

National Medical Research Center for Endocrinology, Ministry of Health of Russia

Email: endogin@mail.ru
Dr. Med. Sci., Professor, Director of the Institute of Reproductive Medicine 117036, Russia, Moscow, Dmitry Ulyanov str., 11

D. G Kurbatov

Center for Medical and Corporate Training

Dr. Med. Sci., Professor, Corresponding Member of the International Academy of Social Sciences, Professor of the Department of Urology 125130, Russia, Moscow, Staropetrovsky proezd, 7a-30, office 305c

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