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Obstetrics and Gynegology2021№5
A rare variant of congenital...

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

DOI
https://dx.doi.org/10.18565/aig.2021.5.204-210

Pronina I.Yu., Molashenko N.V., Babaeva D.M., Uzhegova Zh.A., Troshina E.A., Andreeva E.N., Kurbatov D.G.

1) National Medical Research Center for Endocrinology, Ministry of Health of Russia, Moscow, Russia; 2) National Medical Research Center for Children’s Health, Ministry of Health of Russia, Moscow, Russia; 3) Center for Medical and Corporate Training, Moscow, Russia
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,XX patient 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.

Keywords

congenital adrenal cortical dysfunction
hormone replacement therapy with glucocorticoids and mineralocorticoids
Full text (in Russian)

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Received 23.11.2020

Accepted 01.04.2021

About the Authors

Irina Yu. Pronina, 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. Tel.: +7(916)934-40-81. E-mail: krapchatovaiv@yandex.ru.
ORCID: 0000-0003-3306-6869. 117036, Russia, Moscow, Dmitry Ulyanov str., 11; 119991, Russia, Moscow, Lomonosov Ave., 2-1.
Natalya V. Molashenko, MD, PhD, Leading Researcher of the Department of Therapeutic Endocrinology, National Medical Research Center of Endoтcrinology, Ministry of Health of Russia. Tel.: +7(916)397-21-57. E-mail: molashenko@mail.ru. ORCID: 0000-0001-6265-1210. 117036, Russia, Moscow, Dmitry Ulyanov str., 11.
Diana M. Babaeva, radiologist, National Medical Research Center of Endocrinology, Ministry of Health of Russia. E-mail: dianababaeva1@yandex.ru.
ORCID: 0000-0002-2812-7017. 117036, Russia, Moscow, Dmitry Ulyanov str., 11.
Zhanna A. Uzhegova, gynecologist, endocrinologist, researcher of the Department of Endocrine Gynecology, Institute of Reproductive Medicine, National Medical Research Center of Endocrinology, Ministry of Health of Russia. Tel: +7(905)784-02-36. E-mail: JOANNA4@yandex.ru. ORCID: 0000-0002-3126-3132.
117036, Russia, Moscow, Dmitry Ulyanov str., 11.
Ekaterina A. Troshina, Dr. Med. Sci., Professor, Corresponding Member of the RAS, Head of the Department of Therapeutic Endocrinology, National Medical Research Center of Endocrinology, Ministry of Health of Russia. E-mail: troshina@inbox.ru. ORCID: 0000-0002-8520-8702. 117036, Russia, Moscow, Dmitry Ulyanov str., 11.
Elena N. Andreeva, Dr. Med. Sci., Professor, Director of the Institute of Reproductive Medicine, National Medical Research Center of Endocrinology, Ministry of Health of Russia. E-mail: endogin@mail.ru. ORCID: 0000-0001-8425-0020. 117036, Russia, Moscow, Dmitry Ulyanov str., 11.
Dmitry G. Kurbatov, Dr. Med. Sci., Professor, Corresponding Member of the International Academy of Social Sciences, Professor of the Department of Urology, Center for Medical and Corporate Training (Moscow). 125130, Russia, Moscow, Staropetrovsky proezd, 7a-30, office 305c

For citation: Pronina I.Yu., Molashenko N.V., Babaeva D.M., Uzhegova Zh.A., Troshina E.A., Andreeva E.N., Kurbatov D.G. A rare variant of congenital adrenal cortical dysfunction in a woman with identified rudimentary prostate tissue.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2021; 5: 204-210 (in Russian)
https://dx.doi.org/10.18565/aig.2021.5.204-210
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