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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.

Ambiguous genitalia is a medical term for rare condition in which the newborn’s external genitalia do not conform to either male or female type. The condition of ambiguous genitalia has serious psycho-social concerns and is usually followed-up with a multitude of complex tests for identifying the gender and the cause of the anomaly. Three cases of ambiguous genitalia are reported here where ultrasound helped to elucidate the probable cause and to direct further appropriate tests.

Complete androgen insensitivity syndrome is a rare condition, wherein a genetic male is phenotypically female and is raised as a female. Treatement requires timely gonadectomy, need for long term hormonal replaceent therapy, psycological and genetic counseling. The type, dose, duration of hrt is not well studied. Reproductive issues also need to be addressed in these young woman. We report here a case of complete androgen insensitivity which posed a quandary for management of long term bone health. Review of literature for management is discussed. These cases are best managed by a multi-disciplenary team comprising of gynecologist, geneticist, endocrinologist and clinical psycologist or psychiatrist.

Complete Androgen İnsensitivity Syndrome (Testicular feminization) is the most common cause of male pseudohermaphroditism. The underlying pathology is an end organ resistance to androgen stimulation. Androgen Insensitivity Syndrome could be considered as a disease that causes resistance to androgens actions, influencing differentiation of the body structures and systems in which this hormone exerts its effects. Transmission of this disorder is by means of an X-linked recessive gene that is responsible for the androgen intracellular receptor. The disorder is often found in several members of the same family. This article presents the case of three sisters diagnosed with Complet Androgen Insensitivity Syndrom which was found out during the family history investigation of a female patient having a mass in her inguinal region and a diagnosis of Complet Androgen Insensitivity Syndrom.

Представлено клінічний випадок складного порушення формування статі внаслідок хромосомного мозаїцизму (46ХХ[17]/46ХY[5]/45Х0[8]) із поєднанням дисгенезії гонад та синдрому тестикулярної фемінізації в дівчини-підлітка. Проаналізовано особливості диференційної діагностики в пацієнтки згідно із сучасними уявленнями про етіологію і патогенез патології, підходи до діагностики з позицій останнього консенсусу з надання допомоги дітям із невизначеністю статі та обґрунтовано вибір найоптимальнішої технології лікування., Представлен клинический случай сложного нарушения формирования пола вследствие хромосомного мозаицизма (46ХХ[17]/46ХY[5]/45Х0[8]) с сочетанием дисгенезии гонад и синдрома тестикулярной феминизации у девушки-подростка. Проанализированы особенности дифференциальной диагностики у пациентки согласно современным представлениям об этиологии и патогенезе патологии, подходы к диагностике с позиций последнего консенсуса по оказанию помощи детям с неопределенностью пола и обоснован выбор наиболее оптимальной технологии лечения., We presented a clinical case of complex disorder of gender formation due to chromosome mosaicism (46ХХ[17]/46ХY[5]/45Х0[8]) with a combination of gonadal dysgenesis and testicular feminization syndrome in a teenage girl. Features of differential diagnostics in patient according to modern concepts of etiology and pathogenesis of such pathology were analyzed as well as approaches to the diagnosis based on the last consensus that is dedicated to help children with gender ambiguity. The choice of the most optimal treatment technology is justified.

Objective: Testicular feminization syndrome is a form of male pseudohermaphroditism clinically characterized with female phenotype. We evaluate morphologic features of male gonad in 47 years old patient with an accent on its immunohistochemical properties. Method: Our patient have had a primary amenorrhea. External genitals were female, without pubic and axillary hair. Patient complained of light low abdominal discomfort, and pelvic mass. US confirmed cystic formation of the left gonad and lack of uterus. Tumor markers, including Ca 125, Ca 19, 9, Ca 1.53, CEA, AFP, LDH i HCG were normal but testosterone was high. Cystic formation of the left gonad was surgically removed, initially specified as a left ovary, and sent to quick frozen diagnostic. After that, the other gonad was removed. Pathohistological examination and karyotyping was done. Results: The inner layer of the cystic formation of the left gonad consisted of a single layer of serous cells. The wall of the cyst contained tissue which histological looks like immature testis with small lumen less only Sertoli cells seminiferous tubules, and hyperplastic clusters of Leydig cells between them. Quick frozen section histology, without clinical data, was suggestive for well differentiated Sertoli-Leydig cell tumor of the ovary. The other gonad macroscopically and microscopically was testis that had the same appearance of the seminiferous tubules and had hyperplastic Leydig cell areas. Immunohistochemical analyzes of the gonad sample reveal that Sertoli cells showed positivity for Inhibin α, Vimentin, CD99, CKAE1/AE3 and Calretinin and Leydig cells showed positivity for Inhibin α, Vimentin, CD99, CKAE1/AE3 and Calretinin, and weak positivity for S-100, Synaptophysin i NSE. Immunoreactivity for CD99 in hyperplastic areas of Leydig cells showed the most intensive positivity. PLAP and chromogranin were negative. Ki-67 nuclear positivity was found in less than 1% of Sertoli cells and in about 1% of Leydig cells in hyperplastic areas. Karyotype was 46xy. Conclusion: Although, surgical pathologists encounter TFS rare in a clinical practice, they should be aware of this condition, especially in lack of relevant clinical data, when it could be interpreted as tumor.