Sex Reversal Syndrome (SRS): A Case of SRY-Positive 46,XX Testicular Disorder.

We report a case of an SRY-positive 46,XX Indian male who presented with small testis and phallus, poor beard and mustache development and gynecomastia at the age of 24 years. He was biochemically found to have hypergonadotropic hypogonadism. He had 46,XX karyotype and Quantitative Fluorescence-PCR (QF-PCR) identified the SRY gene on the X chromosome. SRY-positive 46 XX male SRS cases usually present as phenotypically male since birth but develop features of hypogonadism, poor testicular development, and infertility after puberty. Infertility, hypogonadism, external genital development, and psychological distress are the major concerns during the management of the patients. Testosterone therapy for hypogonadism, artificial reproductive technologies for fertility, surgical repair of hypospadias/ cryptorchidism/under-virilized genitalia and psychological and genetic counseling are helpful for proper management of the patients.

Ovotesticular Disorder of Sex Development Presenting as a Scrotal Emergency.

Ovotesticular (OT) disorder of sex development (DSD) is a rare condition that affects the development of reproductive organs and manifests in a wide range of phenotypic presentations. The clinical diagnosis of this condition is challenging because of its atypical nature, and the variability of presentation in 46,XX OT-DSD cases makes it a complex issue in medical practice. We report a case of a 13-year-old boy who presented with left scrotal pain. Further exploration revealed a tunica rupture without testicular torsion of the left testis, whereas the histopathological analysis of a nodule excised from the right testis indicated the presence of ovotestis tissues. A second nonemergent surgery preserved the testicular tissues as the ovarian tissue in both gonads was excised. After 22 months of follow-up, the patient's testes produced normal testosterone levels sustained over time without any exogenous supplementation. This case reveals that, in male children who present with an acute scrotal disease as adolescents, the gonads should be retained until the etiology is confirmed, and the possibility of OT-DSD should be considered.

Ovotesticular disorder of sex development in a 46 XY adolescent: a rare case report with review of the literature.

INTRODUCTION: Ovotestis is a rare cause of sexual ambiguity characterized by the presence in a patient of both testicular and ovarian tissue, leading to the development of both male and female structures. We report a case of ovotestis diagnosed in an adolescent, with a review of the literature. CASE REPORT: A 15-year-old patient presented with a right scrotal swelling associated with gynecomastia. Histology showed a juxtaposition of ovarian stroma with ovarian follicle and seminiferous tubules. Karyotype revealed a male subject (XY). We have therefore retained the diagnosis of ovotesticular disorders of sex development. CONCLUSION: Ovotestis is a rare finding, heterogeneous in its genetic etiology and clinical presentation. While many patients are diagnosed during infancy or childhood, we presented a case diagnosed in a 15-year-old adolescent.

True hermaphroditism with sex cord tumor with annular tubules (SCTAT): a rare case report and review of the literature.

BACKGROUND: True hermaphroditism is a rare condition. It is defined as the presence of both testicular and ovarian tissues in the same individual. Sex cord tumour with annular tubules (SCTAT) is a rare stromal tumour of the sex cord that occurs mostly in the ovaries. CASE PRESENTATION: A 16-year-old girl presented to the gynaecology department with primary amenorrhea. Gynaecological examination revealed an enlarged clitoris that looked like a small penis. The chromosome karyotype was chimaera. The postoperative pathology confirmed true hermaphroditism with SCTAT. The patient underwent hormonal replacement after an operation and had no evidence of recurrence for 6 months. CONCLUSION: Cases of true hermaphroditism with SCTAT are extremely rare conditions. Surgery and hormonal replacement are important for improving the prognosis of such patients.

Robotic excision of vaginal pouch in ovotesticular disorder of sexual development.

PURPOSE: Ovotesticular disorder of sexual development (DSD) is the rarest of DSDs with an incidence of 1:20000 (1). Management of vaginal pouches in such cases is warranted for symptomatic presentations and laparoscopy is considered the gold standard treatment (2). We report a rare case of robotic excision of a large symptomatic vaginal pouch in a 19-year-old boy with ovotesticular DSD. MATERIAL AND METHODS: A 19-year-old boy with ovotesticular DSD post hypospadias repair in early childhood presented with complaints of recurrent UTIs, ballooning of urethra during micturition and post-void dribbling. Ultrasound, voiding cystourethrogram (VCUG) and magnetic resonance imaging (MRI) were suggestive of a vaginal pouch. The patient underwent endo-evaluation followed by robot-assisted excision of the vaginal pouch. Endo-evaluation showed two orifices in the posterior urethra. The posterior orifice was leading into a blind-ending rudimentary uterus and the true urethra was lying anteriorly. The DaVinci Xi Robotic Surgical System was used and the entire pouch was dissected free of the surrounding tissues using monopolar scissors. The pouch was transected just a few millimetres from its junction with the urethra. The urethra was then closed with V-loc 4-0 suture. The patient was discharged on postoperative day 2 and the catheter was removed on day 21. RESULTS: Follow-up VCUG at 6 weeks did not show any residual pouch. There was no complaint of post-void dribbling or UTI at 30 months of follow-up. CONCLUSION: Robot-assisted laparoscopy should be considered as an alternative to laparoscopy for the primary treatment of a large symptomatic vaginal pouch.

Gonadal tumor development in 46,XX disorders of gonadal development.

Background: Differences/disorders of sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Objective: The aim of this study is to report the histological characteristics and immunoexpression patterns of gonadal parenchyma in patients with 46,XX testicular and ovotesticular DSD, with a focus on the detection of germ cell malignancies. Design: Inclusion criteria were SRY-negative 46,XX testicular and ovotesticular DSD with available samples from gonadal biopsy or gonadectomy for the review of histological findings. Gonadal histology was assessed on hematoxylin and eosin-stained sections and immunohistochemical analysis. Histopathological criteria from the last World Health Organization classification of urogenital tumors were used to identify undifferentiated gonadal tissue, gonadoblastoma, and dysgerminoma. Results: Median age at first histological evaluation of gonadal samples was 1.46 years (range: 0.16-16 years). Totally 15 patients were classified as ovotesticular and only 1 as testicular DSD. Most individuals had bilateral ovotestes (12/15). No histological alterations were found in the ovarian parenchyma, while signs of dysgenesis were seen in all cases of testicular parenchyma. In 4/15 ovotesticular DSD, a prepubertal biopsy failed to identify ovarian parenchyma. We detected early prepubertal preinvasive and invasive malignancies in this cohort (five patients had undifferentiated gonadal tissue, five gonadoblastoma, and one dysgerminoma). Conclusion: 46,XX disorders of gonadal development are historically considered at a low risk for germ cell cancer, and the need for assessment of gonadal histology has been questioned. The finding of early germ cell malignancies in our cohort brings awareness and needs further research.

Laparoscopic gonad-sparing procedure in Ovotesticular disorder of sex development - Case video technique.

INTRODUCTION: Ovotesticular disorder of sex development (OTD) is a rare condition. There's a lack of literature addressing gonad-sparing surgery for OTD. OBJECTIVE: Report the laparoscopic partial gonadectomy technique - gonad-sparing surgery - in an 11-year-old child, 46, XX karyotype with OTD with atypical genitalia. MATERIAL AND METHODS: After a complete diagnostic evaluation the patient underwent feminizing genitoplasty followed by laparoscopic partial gonadectomy (gonad-sparing surgery). The patient was positioned on supine position and Trendelenburg. One 5 mm port was placed on the umbilicus and two 3 mm ports in both flanks. A gonadal wedge biopsy was performed to achieve histopathological confirmation before resection. The testicular component of the ovotestis is clearly identified based on macroscopic aspects, and resected with laparoscopic scissors and limited use of electrocautery. DISCUSSION: This case was classified as bipolar or terminal ovotestis. At the 5-month follow-up, the patient attained menarche. No adverse outcomes have been recorded. Postoperative third year follow-up hormone evaluation revealed a= female pattern characteristic and ultrasound demonstraed uterine volume increase, as well as bilateral ovarian tissue development with follicles. CONCLUSIONS: Gonad-sparing procedure is feasible and desirable whenever possible, especially in 46, XX patients with female sex of rearing, since it preserves the fertility potential. The risk of malignancy must be monitored.

Ovotesticular Disorder of Sexual Development and Non-Palpable Testis.

Disorders of sexual development (DSD) refers to a group of diseases that links the mismatch between an individual's genetic and gonadal development and its phenotype. Ovotesticular DSD (true hermaphroditism) is one such disease, in which both male and female gonads are present. A 15-year-old boy with a history of surgery for non-palpable testis was examined due to bilateral gynecomastia and known gonosomal mosaic of Klinefelter syndrome. The external genital was matured as male and, in the left half of the scrotum, there was a testicle of normal size. Despite uncertain resistance on the right side, however, the right testis was not palpable. Revision of the right groin revealed a surprising finding in the form of an ovary with a dilated fallopian tube, both of which were completely removed. Surgical revision of the left testis with biopsy was performed. The surgery was completed with a bilateral mastectomy. The postoperative course was uncomplicated, and the boy is content and fully integrated into his peer group. True hermaphroditism is a rare type of DSD. In the case described, DSD was not exhibited until puberty, after an examination for gynecomastia. The case also confirms the necessity of clarification and long-term follow-up of patients with unclear findings during surgery for non-palpable testis. Diagnostic laparoscopy is clearly indicated in these situations.

SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis.

OBJECTIVE: SRY-negative 46,XX testicular and ovotesticular disorders/differences of sex development (T/OTDSD) represent a very rare and unique DSD condition where testicular tissue develops in the absence of a Y chromosome. To date, very few studies have described the phenotype, clinical and surgical management and long-term outcomes of these patients. Particularly, early blockade of the gonadotropic axis in patients raised in the female gender to minimize postnatal androgenization has never been reported. DESIGN: Retrospective description of sixteen 46,XX T/OTDSD patients. RESULTS: Sixteen 46,XX SRY-negative T/OTDSD were included. Most (12/16) were diagnosed in the neonatal period. Sex of rearing was male for six patients and female for ten, while the clinical presentation varied, with an external masculinization score from 1 to 10. Five patients raised as girl were successfully treated with GnRH analog to avoid virilization during minipuberty. Ovotestes/testes were found bilaterally for 54% of the patients and unilaterally for the others (with a contralateral ovary). Gonadal surgery preserved appropriate tissue in the majority of cases. Spontaneous puberty occurred in two girls and one boy, while two boys required hormonal induction of puberty. One of the girls conceived spontaneously and had an uneventful pregnancy. DNA analyses (SNP-array, next-generation sequencing and whole-exome sequencing) were performed. A heterozygous frameshit mutation in the NR2F2 gene was identified in one patient. CONCLUSIONS: This study presents a population of patients with 46,XX SRY-negative T/OTDSD. Early blockade of gonadotropic axis appears efficient to reduce and avoid further androgenization in patients raised as girls.

A novel approach in the intraoperative management of ovotesticular DSD.

Ovotesticular disorder of sex development (OTD) management remains challenging. In OTD, cautious gonadal evaluation and separation of ovarian and testicular components might be required to avoid virilization of a patient with female identity. Herein we report our minimal invasive approach in this very rare condition. The gonads are externalized under laparoscopic control through trocar openings. Intraoperative ovotesticular ultrasonography (US) is used for clear identification of ovarian and testicular tissue which can then be safely separated. We strongly promote the use of a minimal invasive approach in the management of these patients undergoing long term treatment and often multiple procedures.

46, XX Ovotesticular disorder of sex development (true hermaphroditism) with seminoma: A case report.

RATIONALE: Ovotesticular disorder of sex development (DSD), previously known as true hermaphroditism, is a disorder in which individuals have both testicular and ovarian tissues. Instances of tumors arising in the gonads of individuals with 46,XX ovotesticular DSD are uncommon. PATIENT CONCERNS: We report a case of a 36-year-old phenotypical male with a chief complaint of an abdominal mass for 3 months. He reported normal erections and regular menses. Computerized tomography showed a large tumor measuring 15 × 10 cm in size, a uterus, and a cystic ovary. DIAGNOSIS: 46, XX ovotesticular DSD with seminoma. INTERVENTIONS: The patient was treated with neochemotherapy (etoposide and cisplatin), surgery, chemotherapy, and testosterone replacement. OUTCOMES: At the 13-month follow-up, the patient reported satisfactory erections, and no evidence of disease was found. CONCLUSION: Cases of 46,XX ovotesticular DSD with seminoma are uncommon. Our case reveals the importance of surgery combined with neochemotherapy, chemotherapy, and testosterone replacement in these patients to improve the prognosis.

Laparoscopic gonadectomy in dogs with ovotesticular disorder of sexual development.

Disorders of sexual development (DSD) in dogs involve most commonly an XX sex reversal syndrome, treated conventionally by gonadohysterectomy. The objective of the present case series is to describe the surgical treatment and long-term follow-up of dogs undergoing laparoscopic gonadectomy without hysterectomy for treatment of ovotesticular DSD. Six female dogs clinically diagnosed with DSD were retrospectively included in the study when laparoscopic gonadectomy was performed and histology confirmed the presence of abnormal gonads. The dogs were evaluated by ultrasound after 6 months, and owners were contacted by phone for the long-term reevaluation. Laparoscopic gonadectomy was performed using 2- or 3-portal midline techniques with 3- and/or 5-mm instruments. Additional procedures were performed in 5 dogs, including os clitoris removal in 4 dogs and vulvoplasty in 1 dog. Histological analysis of the gonads reported 11 ovotestes and 1 testis. No major or minor complications occurred perioperatively. Ultrasonographic reevaluation was performed in 5/6 dogs and the remaining abdominal genital system was considered normal. Median long-term follow-up was 617 days (range, 265-1597) with none of the dogs having any symptom related to DSD. Therefore, laparoscopic gonadectomy is a valid alternative for dogs with ovotesticular DSD and is less invasive than conventional open techniques. Removal of the gonads avoids future development of hormone-related diseases of the remaining genital tract.

True hermaphroditism with dysgerminoma: A case report.

INTRODUCTION: True hermaphroditism is a rare and usually sporadic disorder. It is defined by the presence of both ovarian and testicular tissues together as ovotestis. PATIENT CONCERNS: In this study, we reported a rare true hermaphroditism case with dysgerminoma. A 49-year-old woman developed masses in both inguinal regions for 30 years. Recently 3 months, the patient found that the size of mass in her left inguinal region was significantly increased. DIAGNOSIS: After surgical resection, the results of immunohistochemical examination in left mass revealed a dysgerminoma with positive expression of placental alkaline phosphatase and octamer-binding transcription factor 3/4, and right mass was a cryptorchidism. Chromosomal analysis revealed the karyotype 46, XY. Combined immunohistochemical and karyotype analysis, a diagnosis of true hermaphroditism with dysgerminoma was made. INTERVENTIONS: Radiotherapy combined with chemotherapy after tumor resection was used to improve her prognosis. Hormone replacement therapy with conjugated estrogen and medroxyprogesterone acetate were used to maintain her female characteristics. OUTCOMES: The patient underwent hormonal replacement and has been well for 6 months. CONCLUSION: The positive expression of placental alkaline phosphatase and octamer-binding transcription factor 3/4 could be 2 diagnosis markers of dysgerminoma. Surgery combined with radiotherapy and chemotherapy could improve the prognosis of dysgerminoma. Moreover, hormone replacement therapy with conjugated estrogen and medroxyprogesterone acetate was very helpful to maintain the female characteristic of patients with true hermaphroditism.

Description of diagnosis of 45,X/46,XY ovotesticular DSD.

OBJECTIVE: Description of diagnosis of 45,X/46,XY ovotesticular DSD. DESIGN: Case report. SETTING: Department of Medical Genetics, KZ a.s., Masaryk Hospital, Ústí nad Labem. CASE REPORT: 45,X/46,XY ovotesticular DSD is a diagnosis, which in this case was detected by chromosomal examination was performed, in which the child showed karyotype 45,X[2]/46,XY[8] - a pathological male karyotype correlated with the syndrome 45,X/46,XY ovotesticular DSD (disorder of sexual development). At the same time, a variant of chromosome 10:45,X,inv(10) (p11q21.2)/46,XY,inv(10)(p11q21.2) was detected. CONCLUSION: The phenotype of patients with mosaic karyotype 45,X/46,XY ranges in a wide range from the female phenotype with classical Turner syndrome, through individuals with ambiguous genitals to normal but infertile men. Thus, both Turners syndrome and virilization can be expected. Gonads are usually dysgenetic with insufficiently differentiated testicular tissue, which can occur in both gonads (mixed gonadal dysgenesis) or only in one (asymmetric gonadal dysgenesis). With this type of gonadal dysgenesis, there is a risk of gonadoblastoma or other tumors.

Endocrine Management of Ovotesticular DSD, an Index Case and Review of the Literature.

Ovotesticular Differences in Sexual Development (OT-DSD) is a rare subset of DSD with great phenotypic variability characterized by the presence of both testicular and ovarian tissue in the same individual. Here, we describe the case of 46,XX, SRY-negative baby with ambiguous genitalia and ovotestis discovered during laparoscopy. As the family decided on female gender of rearing, the testicular component of the ovotestis was removed while the ovarian component was preserved. Stemming from this case, we review the clinical presentation of OT-DSD throughout ages, the role of genetics and risk for gonadal tumors when making decisions about prophylactic gonadectomy. Finally, we summarize the most recent information of the spontaneous endocrine function, with or without conservative therapy, and fertility potential of people with OT-DSD.

Abordaje del recién nacido con alteraciones del desarrollo sexual / Newborn approach with disorders of sexual development

Resumen Introducción: Las alteraciones del desarrollo sexual en el recién nacido no es una condición infrecuente durante la práctica médica pero sí resulta ser un reto tanto en el abordaje diagnostico como en el terapéutico. Se definen como el conjunto de condiciones en donde el desarrollo del sexo cromosómico, gonadal o anatómico es atípico. Objetivos: Realizar un abordaje integral de las alteraciones del desarrollo sexual y reconocer la importancia de los equipos transdisciplinarios para el manejo de esta patología. Metodología: Se realizó una búsqueda de la literatura con las palabras clave Disorders of sex development, Ovotesticular disorders of sex development, True Hermaphroditism, Gonadal dysgenesis, Adrenal hyperplasia, congenital en cinco bases de datos bibliográficas, se limitó la búsqueda para artículos en idioma español o inglés de los últimos 10 años. Resultados: Se obtuvieron110 artículos de los cuales 36 fueron incluidos en esta revisión, los artículos revisados eran artículos originales, presentación de casos, consensos y artículos de revisión. Conclusiones: La sensibilización al personal de salud sobre esta condición es fundamental para realizar un diagnóstico y tratamiento oportuno, con el objetivo de evitar complicaciones en la salud del recién nacido. La asignación del sexo es uno de los problemas más relevantes para el manejo de esta patología; esta decisión deberá ser tomada por el equipo transdisciplinario de especialistas con experiencia en el tema en donde se realice una evaluación detallada e individual de cada caso.

Abstract Introduction: Disorder of sexual development in newborn is not an infrequent condition during medical practice, but it does prove to be a challenge both in diagnostic and in therapeutic approaches. It is defined as the set of conditions in which the development of chromosomal, gonadal or anatomical sex is atypical. Objectives: To carry out a comprehensive approach to sexual development alterations and to recognize the importance of transdisciplinary teams for the management of this pathology. Methodology: A search of review literature was made with the key words Disorders of sex development, Ovotesticular disorders of sex development, true hermaphroditism, gonadal dysgenesis, and congenital adrenal hyperplasia in five biomedical databases. The search has been limited to Spanish or English language articles of the last 10 years. Results: 110 articles were reviewed, of which 36 were included, they were original articles, case presentations, consensus and review articles. Conclusions: In order to avoid complications in newborn, health personnel should be sensitized, regarding this condition is essential to timely diagnosis and treatment. Assignment of sex is one of the most relevant problems for the management of this condition; this decision must be made by a transdisciplinary team of specialists with experience in the subject where a detailed and individual evaluation of each case is carried out.

Análisis clínico y citogenético de un caso de trastorno del desarrollo sexual testicular XX con SRY negativo / Clinical and Cytogenetic Analysis of a Case of SRY-Negative XX Testicular Disorder of Sex Development / Análise clínica e citogenética de um caso de transtorno do desenvolvimento sexual testicular XX com SRY-negativo

Resumen: El trastorno del desarrollo sexual (TDS) testicular XX es una patología que se presenta en un individuo con cariotipo 46,XX con un fenotipo anatómico de genitales externos masculinos, que pueden variar desde la normalidad hasta la ambigüedad genital. Clínicamente se han descrito dos subgrupos de hombres 46,XX con SRY-negativos y SRY-positivos, dependiendo de la presencia o no del gen SRY que normalmente se encuentra en el cromosoma Y participando en la determinación testicular. En este artículo se describen los antecedentes personales y los hallazgos clínicos de un infante con anomalías del meato urinario en el cual se identificó un complemento cromosómico 46,XX. También, se realizó hibridación in situ fluorescente en linfocitos de sangre periférica que demostró la ausencia del gen SRY y confirmó la presencia de dos cromosomas X.

Abstract XX testicular disorder of sex development (DSD) is a pathology that occurs in an individual with a 46,XX karyotype and an anatomical phenotype of male external genitalia, which may vary from normal to ambiguous. Clinically, two subgroups of SRY-negative and SRY-positive, 46, XX men have been described, depending on the presence of the SRY gene that is normally found on the Y chromosome participating in testicular determination. This article describes the personal history and clinical findings of an infant with urethral meatus abnormalities in whom a 46,XX chromosome set was identified. Also, fluorescent in situ hybridization was performed in peripheral blood lymphocytes which demonstrated the absence of the SRY gene and confirmed the presence of two X chromosomes.

Resumo: O transtorno do desenvolvimento sexual (TDS) testicular XX é uma patologia apresentada em um indivíduo com cariótipo 46,XX com um fenótipo anatômico de genitais externos masculinos, que podem variar da normalidade à ambiguidade genital. Clinicamente, são descritos dois subgrupos de homens 46,XX com SRY-negativos e SRY-positivos, dependendo da presença ou não do gene SRY que normalmente se encontra em Y cromossomo participando da determinação testicular. Neste artigo, são descritos os antecedentes pessoais e os achados clínicos de uma criança com anomalias de meato urinário em que foi identificado um complemento cromossômico 46,XX. Além disso, foi rea -lizada hibridação in situ fluorescente em linfócitos de sangue periférico que demonstrou a ausência do gene SRY e confirmou a presença de dois cromossomos X.

Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood.

A 53-year-old male referred to our centre because of hypergonadotropic hypogonadism detected during urological follow-up for urethral lithiasis. Physical examination showed short stature, micropenis, ambiguous external genitalia, and normal secondary sexual characteristics. Karyotype: 45 × 0/46XY. Abdominal MRI revealed the presence of uterus-like structure, right annex, and left testes without prostate. He underwent laparoscopic removal of dysgenetic tissues; histologic examination confirmed the presence of little uterus, fallopian tubes, little atrophic ovary, and vaginal tract; left testes was atrophic with sclero-jalinosis of seminal tubes and Leydig's cells hyperplasia. Testosterone replacement therapy was started after surgery and prostate became MRI visible after 2 years.

A comprehensive study of disorder of sex development in Staffordshire bull terrier dog.

An 8-month-old female Staffordshire bull terrier was clinically examined because of external sexual organs abnormality-clitoral hypertrophy. As stated by the owner, the female dog had not been in heat yet. Serum profile of testosterone (3.39 ng/ml), as well as an anti-Mullerian hormone (24.0 ng/ml), suggested the presence of testicular tissue. On the contrary, the estimated level of 17ß-oestradiol (24.6 pg/ml) was approximately two times higher when compared with the normal anoestrus values (5-10 pg/ml). A midline laparotomy was performed to detect the cranial parts of the genital system. Gonads resembling testicle or ovotestis (left) and hypoplastic testicle (right) was visible. Cranial portion of gonads was attached to structures indicative of bilateral epididymidis. The next tubular structures-oviducts were resected along with adherent parts of a hypoplastic uterus. Histological evaluation confirmed that the examined gonad samples were testicles with modified interstitial testicular tissue. Hypertrophy of interstitial space was predominantly formed by Leydig cells. Examination of a cross-section through the head of suspected epididymidis confirmed their characteristic structures. In addition, the characteristic configuration of the oviducts was presented. The uterus consisted of three walls, in which the endometrium was hypoplastic with the presence of endometrial glands. No Y chromosome was detected by chromosomal analysis using CFA Y probe and the amplification of SRY-gene coding region (813 bp) indicated genotype 78, XX; SRY-negative. Sequencing of SOX9 gene exons 1-3 did not reveal any differences in exon 1 and 3. On the contrary, a few changes were determined in the SOX9 exon 2 sequences: G instead of A at position 103; C instead of reference T at position 115; GCG instead of reference CGC at position 138-140; T instead of reference C at positions 161, 164 and 167.