A clinical case of partial androgen resistance syndrome (Reifenstein syndrome)

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Abstract

In the paper we describe a clinical case and provide integrated clinical and laboratory data of a  patient with partial androgen resistance syndrome. A 25-year-old male was referred for medical evaluation for an infertile marriage. After a  comprehensive assessment, he was diagnosed with hypergonadotropic hypogonadism, coronal hypospadia, left-sided varicocele, and oligoasthenoteratozoospermia. Cytogenetic analysis showed normal male karyotype (46,XY). Molecular genetic analysis identified the c.731_736delCGGTGT mutation in the exon 1 of the androgen receptor (AR) gene, what allowed for making a diagnosis of Reifenstein syndrome. In addition, we give a brief literature review of the clinical conditions associated with abnormal androgen sensitivity and discuss the problems of testing and counseling of patients with partial androgen resistance syndrome.

About the authors

L. K. Dzeranova

Endocrinology Research Center

Author for correspondence.
Email: dzeranovalk@yandex.ru
ORCID iD: 0000-0002-0327-4619

Larisa K. Dzeranova – MD, PhD, Academic Secretary, Chief Research Fellow, Department of Neuroendocrinology and Osteopathy; Professor, Chair of Endocrinology, Institute of Higher and Continuing Professional Education 

11 Dmitriya Ul'yanova ul., Moscow, 117036

Russian Federation

E. A. Pigarova

Endocrinology Research Center

Email: kpigarova@gmail.com
ORCID iD: 0000-0001-6539-466X

Ekaterina A. Pigarova – Acting Director, Institute of Higher and Continuing Professional Education 

11 Dmitriya Ul'yanova ul., Moscow, 117036

Russian Federation

E. V. Ivannikova

Endocrinology Research Center

Email: fake@neicon.ru
ORCID iD: 0000-0002-2764-1049

Ekaterina V. Ivannikova – MD, PhD, Senior Research Fellow, Department of Obesity and Pathology of Metabolism, Unit of Therapeutic Endocrinology 

11 Dmitriya Ul'yanova ul., Moscow, 117036

Russian Federation

L. F. Kurilo

Research Centre of Medical Genetics

Email: fake@neicon.ru

Lyubov' F. Kurilo – Chief Research Fellow, Laboratory of Genetics of Reproduction Disorders 

1 Moskvorech'e ul., Moscow, 115522

Russian Federation

V. B. Chernykh

Research Centre of Medical Genetics

Email: fake@neicon.ru
ORCID iD: 0000-0002-7615-8512

Vyacheslav B. Chernykh – Head of Laboratory of Genetics of Reproduction Disorders 

1 Moskvorech'e ul., Moscow, 115522

Russian Federation

A. V. Polyakov

Research Centre of Medical Genetics

Email: fake@neicon.ru

Aleksandr V. Polyakov – Head of Laboratory of DNA diagnostics 

1 Moskvorech'e ul., Moscow, 115522

Russian Federation

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Copyright (c) 2020 Dzeranova L.K., Pigarova E.A., Ivannikova E.V., Kurilo L.F., Chernykh V.B., Polyakov A.V.

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