Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity
We report on an adult male initially presenting with gynecomastia and a painless scrotal mass without additional genital anomalies. Hyperpigmentation of the skin following the Blaschko's lines was identified. He underwent gonadectomy because of suspected cancer. Histological analyses revealed an ovotestis with ovulatory activity confirmed by immunohistochemistry with multiple markers. Karyotyping of cultured peripheral blood lymphocytes and a buccal smear revealed a 46,XX/46,XY chimeric constitution with different percentages. Multiple molecular analyses as well as blood typing implied a tetragametic origin. After the unil...
Source: Sexual Development - September 19, 2017 Category: Biology Source Type: research
Development of Laboratory Investigations in Disorders of Sex Development
Scientific knowledge to understand the biological basis of sex development was prompted by the observation of variants different from the 2 most frequent body types, and this became one of the fields first studied by modern pediatric endocrinology. The clinical observation was supported by professionals working in different areas of laboratory sciences which led to the description of adrenal and gonadal steroidogenesis, the enzymes involved, and the different deficiencies. Steroid hormone measurements evolved from colorimetry to radioimmunoassay (RIA) and automated immunoassays, although gas and liquid chromatography coupl...
Source: Sexual Development - September 12, 2017 Category: Biology Source Type: research
Importance of Serum Testicular Protein Hormone Measurement in the Assessment of Disorders of Sex Development
Commonly known for testosterone secretion, the testes also produce the protein hormones anti-m üllerian hormone (AMH), inhibin B, and insulin-like factor 3 (INSL3). AMH and inhibin B are secreted by Sertoli cells, whereas INSL3 is a Leydig cell product. AMH is involved in fetal sex differentiation and induces the regression of the anlagen of the uterus and fallopian tubes. INSL3 participates in fetal testicular descent. Serum testicular protein hormone assessment can be very useful and complementary to testosterone measurements in patients with DSD. AMH and inhibin B determination is extremely helpful during childhood, wh...
Source: Sexual Development - August 29, 2017 Category: Biology Source Type: research
Testicular XX (SRY-Negative) Disorder of Sex Development in Cat
In this study, we describe the first case of an XX (SRY-negative) DSD cat. The cat possesses a tortoiseshell coat associated with male-like external genitalia, including normal scrotum with 2 palpably normal testicles. Histological analysis confirmed the presence of the testes, and cytogenetic and genetic analyses showed a female karyotype associated with the absence of theSRY gene. Finally, sequencing of theRSPO1 gene revealed no mutation, and FISH analysis of theSOX9 locus did not reveal any large abnormalities.Sex Dev (Source: Sexual Development)
Source: Sexual Development - August 28, 2017 Category: Biology Source Type: research
Testicular XX ( < b > < i > SRY < /i > < /b > -Negative) Disorder of Sex Development in Cat
In this study, we describe the first case of an XX (SRY-negative) DSD cat. The cat possesses a tortoiseshell coat associated with male-like external genitalia, including normal scrotum with 2 palpably normal testicles. Histological analysis confirmed the presence of the testes, and cytogenetic and genetic analyses showed a female karyotype associated with the absence of theSRY gene. Finally, sequencing of theRSPO1 gene revealed no mutation, and FISH analysis of theSOX9 locus did not reveal any large abnormalities.Sex Dev (Source: Sexual Development)
Source: Sexual Development - August 25, 2017 Category: Biology Source Type: research
Effects of Incubation Temperature on the Expression of Sex-Related Genes in the Chinese Pond Turtle, < b > < i > Mauremys reevesii < /i > < /b >
In this study, we cloned the full-length coding sequences ofCyp19a1, Foxl2, Rspo1,Sf1, andSox9 in an Asian freshwater turtle (Mauremys reevesii) with TSD and identified the expression patterns of these genes andDmrt1 at different incubation temperatures to understand their roles in urogenital development. Our results showed thatCyp19a1, Foxl2,andRspo1 were expressed in the adrenal-kidney-gonadal complex at a high level in females, whileSf1 and Dmrt1 were highly expressed in males. In addition,Foxl2 andRspo1 showed sex-dimorphic expression in the presumed early thermosensitive period (TSP), Dmrt1was upregulated at the begin...
Source: Sexual Development - August 22, 2017 Category: Biology Source Type: research
Germline Development of Genetically Female Nile Tilapia (Oreochromis niloticus) Reared under Different Temperature Regimes
In teleosts, elevated temperature during embryogenesis can act on germline cell development, which in turn plays a role for sexual fate. In Nile tilapia, a species with high-temperature-induced masculinization, little is known about the effects of increased temperature on gonadal development in non-masculinized females. The aim of the present work was to investigate persistent effects on the germline of genetically female (XX) Nile tilapia reared at normal (28 °C) or elevated temperature (36°C) during the critical time of gonadal sex differentiation at 10 to 20 days post fertilization. Non-sex-reversed females were compa...
Source: Sexual Development - August 22, 2017 Category: Biology Source Type: research
Imaging Techniques in the Diagnostic Journey of Disorders of Sex Development
Various disorders of sex development (DSD) result in an abnormal development of genitalia that may be recognized at prenatal ultrasonography, immediately after birth, or later in life. Because of the complex nature of DSD, the participation of a multidisciplinary team, including imaging or radiology technologists, is required to address the patient's medical needs. The first steps in the management of DSD are sex evaluation, which is based on factors such as the genotype, the presence, location, and appearance of reproductive organs, the potential for fertility, and the cultural background and beliefs of the patient's fami...
Source: Sexual Development - August 21, 2017 Category: Biology Source Type: research
Germline Development of Genetically Female Nile Tilapia ( < b > < i > Oreochromis niloticus < /i > < /b > ) Reared under Different Temperature Regimes
In teleosts, elevated temperature during embryogenesis can act on germline cell development, which in turn plays a role for sexual fate. In Nile tilapia, a species with high-temperature-induced masculinization, little is known about the effects of increased temperature on gonadal development in non-masculinized females. The aim of the present work was to investigate persistent effects on the germline of genetically female (XX) Nile tilapia reared at normal (28 °C) or elevated temperature (36°C) during the critical time of gonadal sex differentiation at 10 to 20 days post fertilization. Non-sex-reversed females were compa...
Source: Sexual Development - August 21, 2017 Category: Biology Source Type: research
Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis
Complete gonadal dysgenesis (CGD) is characterized by an incomplete differentiation of the genital organs in a patient with a 46,XY karyotype. It is induced by mutations in the sex-determining region Y (SRY) gene which plays a key role in testis-determining pathways. The aim of this study was to investigate the possible pathogenic nature of a novelSRY mutation (p.Y127H) identified in a 46,XY female patient. To determine the effect of this mutation on SRY function, we studied its impact on DNA interaction by electrophoretic mobility shift assays. Since tyrosine 127 is close to the C-terminal nuclear localization signal of S...
Source: Sexual Development - August 9, 2017 Category: Biology Source Type: research
Functional Analysis of Mutations at Codon 127 of the < b > < i > SRY < /i > < /b > Gene Associated with 46,XY Complete Gonadal Dysgenesis
Complete gonadal dysgenesis (CGD) is characterized by an incomplete differentiation of the genital organs in a patient with a 46,XY karyotype. It is induced by mutations in the sex-determining region Y (SRY) gene which plays a key role in testis-determining pathways. The aim of this study was to investigate the possible pathogenic nature of a novelSRY mutation (p.Y127H) identified in a 46,XY female patient. To determine the effect of this mutation on SRY function, we studied its impact on DNA interaction by electrophoretic mobility shift assays. Since tyrosine 127 is close to the C-terminal nuclear localization signal of S...
Source: Sexual Development - August 8, 2017 Category: Biology Source Type: research
Androgen Regulates Dimorphic F-Actin Assemblies in the Genital Organogenesis
In this study, histological analyses, fluorescent staining, and transmission electron microscopy (TEM) were performed to reveal the cellular dimorphisms of UMCs. F-actin dynamics and migratory behaviors of UMCs were further analyzed by time-lapse imaging. We observed a prominent accumulation of F-actin with poorly assembled extracellular matrix (ECM) in female UMCs. In contrast, thin fibrils of F-actin co-aligning with the ECM through membrane receptors were identified in male UMCs. Processes for dimorphic F-actin assemblies were temporally identified during an androgen-regulated masculinization programming window and spat...
Source: Sexual Development - July 26, 2017 Category: Biology Source Type: research
Gonadectomy in Complete Androgen Insensitivity Syndrome: Why and When
Prophylactic gonadectomy has been recommended in complete androgen insensitivity syndrome (CAIS) because of an increased risk for the development of malignant germ cell tumors in the intra-abdominal gonads. No reliable screening parameters are available to detect early (pre-)malignant changes. Because the tumor risk before puberty is very low, the timing of gonadectomy has been postponed to allow spontaneous puberty and involvement of the patients in important decisions affecting their body and health. Gonadectomy after puberty is still discussed controversially. There are difficulties in determining the absolute malignanc...
Source: Sexual Development - July 19, 2017 Category: Biology Source Type: research
Gonadectomy in Complete Androgen Insensitivity Syndrome: Why and When?
Prophylactic gonadectomy has been recommended in complete androgen insensitivity syndrome (CAIS) because of an increased risk for the development of malignant germ cell tumors in the intra-abdominal gonads. No reliable screening parameters are available to detect early (pre-)malignant changes. Because the tumor risk before puberty is very low, the timing of gonadectomy has been postponed to allow spontaneous puberty and involvement of the patients in important decisions affecting their body and health. Gonadectomy after puberty is still discussed controversially. There are difficulties in determining the absolute malignanc...
Source: Sexual Development - July 18, 2017 Category: Biology Source Type: research
