Chromosome Disorders Of Sex Development Research Articles

Spectrum of Disorders of Sex Development: A Single-Center Experience in the Southern Area of Iraq.

The most common presentation of disorders of sex development (DSD) is in the neonatal period when a baby is born with atypical ("ambiguous") genitalia, making it unclear whether the child is a boy or a girl. This study aims to provide an overview of the DSD spectrum, seen in Faiha Specialized Diabetes, Endocrine and Metabolism Center (FDEMC), Basrah, southern area of Iraq. A retrospective study on patients with DSD was referred to FDEMC, a tertiary center in Basrah, between January 2009 and December 2023. Out of the total 150 studied patients, individuals above 15 years old comprised the majority. Sex chromosomal DSD made up 37.3% of the cases, while 46, XY DSD comprised 34.7%, and 46, XX DSD accounted for 28% of the total. Many patients with DSD in Basrah were diagnosed late, beyond infancy. Increasing awareness among healthcare providers and families is essential for early diagnosis during infancy.

Clinical Presentation and Etiologic Diagnosis of Disorders of Sex Development in Children in Senegal

Introduction: Disorders of Sex Development (DSD) refer to situations where chromosomal, gonadal or anatomical sex is atypical. We aimed to describe the baseline characteristics on clinical and etiological diagnosis of DSD in Senegalese children. Methods: This retrospective cohort study over a period of 8 years (2015-2022) included all children aged 0 to 18 years followed for DSD at the pediatric endocrinology department of NCHAR in Dakar. Sociodemographic clinical, paraclinical (genetics, imaging, hormonal) parameters were collected and analyzed with Epi Info 7.2. The description was made using position and dispersion parameters and illustrations in the form of appropriate tables and graphs. Bivariate analysis was used for associations between variables, with an alpha error risk of 5% and a CI of 95%. All ethical rules have been respected. Results: We included 102 DSD cases. Only 61 patients (59.80%) had a genetic diagnosis. Mean age at diagnosis was 31.2 ± 46.6 months. Rearing sex of child was male in 35 cases (57.38%) and female in 22 cases (36.06%) and undetermined in 4 cases (6.56%). Based on karyotype analysis, 31(50.82%) of children had 46,XY DSD, 27 (44.26%) had 46,XX DSD and three (4.92%) children with sex chromosome DSD. Etiologies were dominated by congenital adrenal hyperplasia (81.48%) and androgen insensitivity (38.71%) in 46,XX and 46,XY DSD respectively. External masculinization score > 4, palpation of a gonad, a phallus length > 2.5, a single urogenital orifice as well as ultrasound sex were associated with the XY karyotype. Conclusion: Health care professional and medical students should be trained for early diagnosis. A national guideline should be developed for diagnosis and management of DSD during and beyond the pediatric age group, and adapted to evidence and available resources. This can only be achieved if the management of DSD is supported by universal health insurance.

A Novel NR5A1 Mutation in a Thai Boy with 46, XY DSD.

Disorders of sex development (DSD) can be classified as 46,XX DSD, 46,XY DSD, and sex chromosome DSD. Several underlying causes including associated genes have been reported. Steroidogenic factor-1 is encoded by the NR5A1 gene, a crucial regulator of steroidogenesis in the growth of the adrenal and gonadal tissues. It has been discovered to be responsible for 10 to 20% of 46, XY DSD cases. Here, we described a 2-month-old infant who had ambiguous genitalia and 46, XY. Using whole exome sequencing followed by polymerase chain reaction-Sanger sequencing, a novel heterozygous nonsense c.1249C > T (p.Gln417Ter) variant in the NR5A1 gene was identified. It is present in his mother but absent in his father and maternal aunt and uncle. At the age of 7 months, the patient received a monthly intramuscular injection of low-dose testosterone for 3 months in a row. His penile length and diameter increased from 1.8 to 3 cm and from 0.8 to 1.3 cm, respectively. The patient also had normal adrenal reserve function by adrenocorticotropic hormone stimulation test. This study identified a novel causative p.Q417X (c.1249C > T) variant in NR5A1 causing 46,XY DSD in a Thai boy which is inherited from his unaffected mother.

English

Disorders of sex development (DSD) when diagnosed early is important as it pose a real public health problem in Senegal. Among the supporting tools, molecular ones, which are not available everywhere are very useful. In this context, cytogenetic and molecular analyses were implemented in cytology laboratory at the Aristide Le Dantec hospital to enhance the DSDs diagnosis as well as evaluate the impact of the parents' age on such abnormalities. 55 cases of DSD have been received in the cytology laboratory for which cytogenetic (Barr chromatin and GTG karyotype) and molecular (SRY gene research) techniques have been used to characterize these anomalies according to the standards described in the international nomenclature. Three categories of DSD were found, namely 46,XX DSD, 46,XY DSD and chromosomal DSD. SRY is present in 4 patients 46,XX and absent in 3 patients 46,XY and results showed that the diagnosis is made earlier than previously (about 07 years). The study thus suggests the importance of complementarity (cytogenetics and molecular biology) in the diagnosis of DSD but also and especially the importance of early diagnosis from birth. Analysis of the epidemiological data also showed a slight correlation between maternal age and DSD. This showed us that a better characterization of DSD via increasingly powerful tools helps understanding on such pathologies and allows good medical care for patients.   Key words: Disorders of sex development (DSD), karyotype, SRY, hermaphroditis.

What the twenty-year series in children with disorders of sex development tells us?

Aim: Although Disorders of sex development (DSD) are not a common pathology, they are destructive for individuals, families and society and require serious effort for the health personnel who treat and follow these patients. This study aims to evaluate the clinical, laboratory, genetic and radiological findings of our twenty-year series with DSD patients and to reveal remarkable issues. Material and Methods: This retrospective study and DSD patients who were detected were divided into three groups according to the Chicago classification. In this study, there were a total of 92 patients with DSD in the hospital records from 1999 to 2019 and all the data obtained were evaluated descriptive statistical. The distributions of the qualitative data were expressed by count and percentage in frequency tables. Results: The mean presentation age of 92 patients with DSD was 9.45 ± 6.81. These patients were admitted due to suspicious genitalia. Twenty-five out of all patients (27.1%) had sex chromosome DSD patients. The mean presentation age of these patients was 15 ± 0.83 years. We examined the etiologies of thirty-four 46 XY DSD patients. Totally 12 patients had androgen-insensitive syndrome. In our study we found thirty-three, 46 XX karyotypes DSD patients. Twenty seven out of the patients in the same group were found to have congenital adrenal hyperplasia (CAH). Conclusion: The differences in DSD patients maybe are not noticed by both the family and the doctors they first consult. DSD patients may be diagnosed late and genetic analysis may be delayed because the first admission to these patients is delayed. These patients maybe are raised in different genders until they are diagnosed by their specialists. The delay in the diagnosis of the patient may also affect the content of the surgical procedure performed. DSD should be considered in every child who presents with suspicious genital anomalies.

Etiological classification and clinical spectrum of Egyptian pediatric patients with disorder of sex development, single center experience

The aim of the current work was to review the clinical profile, aetiological classification, as well as the management of Egyptian paediatric patients with disorders of sex development (DSD) presenting at a tertiary centre in Cairo. The study was a cross-sectional observational study that included Egyptian patients who attended the Endocrinology clinic during a period of one year from January to December 2019. All patients with overt genital ambiguity aged from 0 to 18 years were recruited in the study. Diagnosis of DSD was based on clinical features and hormonal profile. Out of 100 patients, 71% had 46XY DSD, 24% had 46XX DSD, while sex chromosome DSD was identified in 5%. The median age of presentation was 12 months with 19% presented during infancy. The most common cause of 46XY DSD was due to either defect in androgen synthesis or action (40%) with the majority due to androgen insensitivity syndrome (28%). Most of the 46XX DSD (21/24) patients were diagnosed as classic congenital adrenal hyperplasia secondary to deficiency of 21 hydroxylase enzyme, with 90% being salt wasters. Our series revealed that 46XY DSD was the most frequent DSD aetiological diagnosis, with androgen insensitivity syndrome representing the commonest cause. CAH with classic salt wasting type was the second most common disorder. Management of children with DSD is challenging especially with lack of adequate resources. The crucial issues that stand against proper diagnosis and management are late presentation combined with economic constrains, and social and cultural issues.

The Evaluation of Parental Acceptance Towards Children with Sex Chromosomal Disorders of Sex Development Using A Mixed-Method

Background: Sex chromosomal Disorder of sex development (DSD) is an atypical abnormality of external genitalia which is mismatched with its sex chromosome traits. The condition of children with DSD affects the dynamics in the family. Parents’ reactions after discovering this health problem vary greatly, such as being in a state of shock, confusion, or self-blame. However, parents’ acceptance is extremely important for better quality of caring, to the healthy social and emotional child development, and to make the best decisions regarding gender assignment.Objective: To describe the acceptance process of parents that have children with sex chromosomes mosaicism DSD.Methods: This study used a mixed-method with a sequential explanatory approach, which was preceded by quantitative data collection followed by qualitative. The total respondents consisted of 14 mothers and 12 fathers of 14 sex chromosome mosaicism DSD patients with XX/XY, X/XY, XYY or XXY variants. Quantitative data were collected using the Indonesian version of the Parental Acceptance-Rejection Questionnaire (PARQ), and interviews were conducted to determine the acceptance process.Results: Most acceptance cases were based on the surgical stage completion in which a higher number of mothers (71.43%) than fathers (50%).Conclusion: It is uneasy for parents to accept children with sex chromosome mosaicisms DSD, hence the fathers struggle more than mothers in accepting those affected. To the best of our knowledge this is the first study in Indonesia to help parent understand and accept their child condition.

How are the characteristics of patients of disorders of sex development in Indonesia?

Background: Disorders of sex development (DSD) is a congenital condition in which there are disorders of sex development on chromosomes, gonads, and anatomy. The spectrum of these disorders is very broad, so that its incidence and characteristics are difficult to identify. The aim was to describe the characteristics of DSD patients at our institution. Methods: This is a retrospective descriptive of patients diagnosed with DSD in the period January 2017 - December 2019. Data were taken from medical records including ages, type of DSD and their management. Results: There were 70 patients with DSD, with a mean age of 6,74 years (range 0-19 years). Sixty four patients (91,42%) were raised as boys, with genotype 46 XY 90,62%, 46 XX 4,68%, 45 XO-46 XY 3,12%, and 47 XXY 1,56%. A total of 6 patients with genotype 46 XX (8,57%) were raised as girls. Four cases were DSD 46 XX (CAH 2,8%), DSD 46 XY was present in 54 cases, while chromosomal DSD was present in 4 cases including ovotesticular type, testicular type, Klinefelter Syndrome, embryogenic testis regression, and persistent Mullerian Tract Syndrome. A total of 2,8% experienced gender reassignment to become girls and 2,8% become boys. There were 78,57% who had undergone masculinized genitoplasty, 7,14% had undergone feminization genitoplasty, 14,28% had not undergone surgery, and 2,8% had not yet determined their gender. Summary: DSD patients at our institution presented in preschool, with a predominantly 46 XY genotype, most of whom did not undergo gender reassignment, and surgical management was gender-adjusted.

Poremećaji polne diferencijacije - iskustvo tercijernog centra

Introduction/aim: Disorders of sex development (DSD) comprise a heterogeneous group of congenital conditions with a difference between chromosomal, gonadal sex and the appearance of the external genitalia. The frequency of DSD is 1: 4,500-5,500 newborns per year. Congenital adrenal hyperplasia (CAH) due to the deficiency of the 21-hydroxylase enzyme is one of the most common and best-known causes of DSD. Other forms of CAH, as well as other causes of DSD, occur with significantly lower individual frequencies and are thus more challenging to diagnose and treat. The aim of the study was to analyse the etiology and clinical characteristics of DSD, as well as changes in the diagnostic and therapeutic approach to DSD in the tertiary center during the previous 13 years. Methods: The study was conducted in the form of a retrospective cohort study which included all patients investigated for DSD at the Department of Endocrinology of Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic" during the period from December 2007 until November 2020. Children with DSD caused by CAH due to 21-hydroxylase deficiency were not included in this study. Results: The study included a total of 31 children with DSD: 24 children (77%) had 46XY DSD, 3 (10%) had 46XX DSD, and 4 children (13%) had chromosomal DSD. A definitive diagnosis of specific etiology has been made in 25 children (81%), and the most common etiology of DSD was gonadal dysgenesis (55%), followed by the androgen insensitivity syndrome (10%) and atypical forms of CAH (7%). During the period 2 (2016-2020) more children with DSD (n = 18) were examined compared to the period 1 (2007-2015) and the specific etiological diagnosis was established in a larger number of children with DSD (89%) compared to the period 1 (69%). Also, during period 2 (2016-2020) genital surgery was performed in a significantly lesser number of children (11%) and at a later age (average age 6.8 years) than in period 1 (64%, average age 4.8 years; p <0.05). Conclusion: During the latter period (2016-2020), there has been an increase in the number of investigated children as well as the percentage of DSD with established specific etiology. Also, the diagnosis is increasingly being made on the basis of genetic analysis, and genitoplasty is performed in a decreasing number of children and at a later age. A holistic and multidisciplinary approach is required for the evaluation treatment of children with DSD.

Gender Identity and Assignment Recommendations in Disorders of Sex Development Patients: 20 Years’ Experience and Challenges

Objective:Gender assignment in infants and children with disorders of sex development (DSD) is a stressful situation for both patient/families and medical professionals.Methods:The purpose of this study was to investigate the results of gender assignment recommendations in children with DSD in our clinic from 1999 through 2019.Results:The mean age of the 226 patients with DSD at the time of first admission were 3.05±4.70 years. 50.9% of patients were 46,XY DSD, 42.9% were 46,XX DSD and 6.2% were sex chromosome DSD. Congenital adrenal hyperplasia (majority of patients had 21-hydroxylase deficiency) was the most common etiological cause of 46,XX DSD. In 46,XX patients, 87 of 99 (89.7%) were recommended to be supported as a female, 6 as a male, and 4 were followed up. In 46,XY patients, 40 of 115 (34.8%) were recommended to be supported as a female, and 70 as male (60.9%), and 5 were followed up. In sex chromosome DSD patients, 3 of 14 were recommended to be supported as a female, 9 as a male. The greatest difficulty in making gender assignment recommendations were in the 46,XY DSD group.Conclusion:In DSD gender assignment recommendations, the etiologic diagnosis, psychiatric gender orientation, expectation of the family, phallus length and Prader stage were effective in the gender assignment in DSD cases, especially the first two criteria. It is important to share these experiences among the medical professionals who are routinely charged with this difficult task in multidisciplinary councils.

What Does AMH Tell Us in Pediatric Disorders of Sex Development?

Disorders of sex development (DSD) are conditions where genetic, gonadal, and/or internal/external genital sexes are discordant. In many cases, serum testosterone determination is insufficient for the differential diagnosis. Anti-Müllerian hormone (AMH), a glycoprotein hormone produced in large amounts by immature testicular Sertoli cells, may be an extremely helpful parameter. In undervirilized 46,XY DSD, AMH is low in gonadal dysgenesis while it is normal or high in androgen insensitivity and androgen synthesis defects. Virilization of a 46,XX newborn indicates androgen action during fetal development, either from testicular tissue or from the adrenals or placenta. Recognizing congenital adrenal hyperplasia is usually quite easy, but other conditions may be more difficult to identify. In 46,XX newborns, serum AMH measurement can easily detect the existence of testicular tissue, leading to the diagnosis of ovotesticular DSD. In sex chromosomal DSD, where the gonads are more or less dysgenetic, AMH levels are indicative of the amount of functioning testicular tissue. Finally, in boys with a persistent Müllerian duct syndrome, undetectable or very low serum AMH suggests a mutation of the AMH gene, whereas normal AMH levels orient toward a mutation of the AMH receptor.

Disorders of Sex Development: A 5-year Review of Patients at a Tertiary Care Hospital

Background. Disorders of Sex Development (DSD) are conditions that arise from an abnormality of the typical structural, chromosomal and/or gonadal characteristics of sex development. The incidence of DSD is not well established in the Philippines and there is no published local data. The complex nature of DSD requires streamlined multidisciplinary team management and guidelines from the 2006 Consensus meeting have become the standard of care for patients.Objective. The study describes the phenotype, biochemical, diagnostic and management profiles of patients with Disorders of Sex Development (DSD) excluding congenital adrenal hyperplasia (CAH) at the Philippine General Hospital, a tertiary care medical facility.Methods. Medical records of patients with DSD seen at the Division of Clinical Genetics from 2012-2016 were reviewed. Histories, demographic profiles, clinical features, co-existing health conditions, laboratory, imaging results, and interventions (medical or surgical) were recorded into a clinical report form.Results. Fifty-five (55) patient charts were included of all the patients with DSD listed in the registry. The neonatal period was the most common time DSD was first noted (69.09%). Most (58.18%) were assigned the male sex. The most common genital anomalies were hypospadias (45.45%), cryptorchidism (21.82%), and micropenis (12.73%). Associated health conditions included multiple congenital anomalies (32.73%), genitourinary with or without gastrointestinal anomalies (16.36%) and dysmorphic features (12.73%). Among 28patients with karyotypes, there were 12 patients with sex chromosome DSD; two 46, XX DSD and fourteen 46, XY DSD. Four patients were prescribed hydrocortisone, three of whom had higher levels of 17-OH progesterone beyond cut-off level (2 preterm, 1 full term) while 1 full term presented with genital ambiguity; one case of Klinefelter syndrome was given testosterone replacement. Ten patients underwent corrective surgery for urogenital anomalies. Repair of hypospadias was the most common procedure. Repairs of associated anomalies (neurologic, cardiac, gastrointestinal, genitourinary) were done in 6 patients.Conclusion. Complete history, meticulous physical examination and comprehensive investigations are important for the confirmation of DSDs. Uniform classification, use of standardized terminology, and proper documentation of findings are crucial for the integrated and appropriate management of these patients.

Observational study of disorders of sex development in Yaounde, Cameroon.

Introduction According to the current classification of the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Pediatric Endocrinology (ESPE) of Disorders of Sex Development (DSD), etiologies vary around the world. Ethnic or genetic diversity probably explains this variability. We therefore conducted the present study on etiologies of DSDs in a country from central Africa. Methods We carried out an observational retrospective study at the Pediatric Endocrinology Unit of the Mother and Child Centre of the Chantal Biya Foundation in Yaounde, Cameroon from May 2013 to December 2019. All patients diagnosed with a DSD were included, and incomplete files excluded. Results We included 80 patients diagnosed with DSD during the study period. The 46,XX DSD were the most frequent in our study population (n = 41, 51.25%), with congenital adrenal hyperplasia (CAH) as the main diagnosis. The 46,XY DSD accounted for 33.75% and sex chromosome DSD group represented 15% of the study population. Conclusions DSDs are not an exceptional diagnosis in a Sub-Saharan context. 46,XX DSD are the most prevalent diagnosis in our setting. The diagnosis of all these affections is late compared to other centers, justifying advocacy for neonatal screening of DSDs in our context.

Genetic spectrum of disorders of sex development in children in Ukraine

Disorders of sex development (DSD) is a group of pathological conditions where there is a discrepancy between the chromosomal, gonadal and phenotypic sex. Objective — to investigate the clinical and molecular genetic characteristics of DSD in children in Ukraine. Materials and methods. We carried out a retrospecti­­ve analysis of 106 medical records of patients with DSD during period from 2000 to 2019 and analyzed the results of clinical data, medical history, hormonal, genetic, functional and instrumental investigations. All patients (from birth to 18 years old) underwent cytogenetic (karyotyping according to the standard methods) and, if necessary, molecular genetic studies (FISH method). Molecular genetic testing was performed in a selected group of patients with 46,XY and 46,XX DSD (n = 49) using whole exome sequencing (WES). Results and discussion. Among the examined 106 patients with DSD, chromosomal DSD was diagnosed in 17.0 % (n = 18) of patients, 46,XY DSD — in 68.9 % (n = 73) and 46,XX DSD — in 14.1 % (n = 15) cases. The majority of children (60 %) out of 46,XY DSD cohort are brought up in a female civilian sex, and 57.1 % of patients out of 46,XX DSD cohort — as males. Among children with 46,XY, and 46,XX DSD genetic testing (WES) found pathogenic mu­­tations in 46.9 % of cases, variants of unknown significan­­ce — in 30.6 % of cases, in 6.1 % of patients the identified mutations were not the cause of DSD, and in 16.3 % of patients WES didn’t find the genetic cause of their disease. According to the data of the Registry, the largest group of DSD in Ukrainian children (68.9 %) is 46,XY DSD, and the most common genetic cause of DSD in them (26 %) are mutations in the androgen receptor gene. Conclusions. All patients with 46,XY and 46,ХХ DSD require genetic testing (in particular WES) to verify the clinical diagnosis, justify treatment tactics and further observation.

Etiology and Clinical Presentation of Disorders of Sex Development in Kenyan Children and Adolescents.

Objective The purpose of this study was to describe baseline data on etiological, clinical, laboratory, and management strategies in Kenyan children and adolescents with Disorders of Sex Development (DSD). Methods This retrospective study included patients diagnosed with DSD who presented at ages 0–19 years from January 2008 to December 2015 at the Kenyatta National (KNH) and Gertrude's Children's (GCH) Hospitals. After conducting a search in the data registry, a structured data collection sheet was used for collection of demographic and clinical data. Data analysis involved description of the frequency of occurrence of various variables, such as etiologic diagnoses and patient characteristics. Results Data from the records of 71 children and adolescents were reviewed at KNH (n = 57, 80.3%) and GCH (n = 14, 19.7%). The mean age at the time of diagnosis was 2.7 years with a median of 3 months. Thirty-nine (54.9%) children had karyotype testing done. The median age (IQR) of children with reported karyotypes and those without was 3.3 years (1.3–8.9) and 8.3 years (3.6–12.1), respectively (p=0.021). Based on karyotype analysis, 19 (48.7%) of karyotyped children had 46,XY DSD and 18 (46.2%) had 46,XX DSD. There were two (5.1%) children with sex chromosome DSD. Among the 71 patients, the most common presumed causes of DSD were ovotesticular DSD (14.1%) and CAH (11.3%). Majority (95.7%) of the patients presented with symptoms of DSD at birth. The most common presenting symptom was ambiguous genitalia, which was present in 66 (93.0%) patients either in isolation or in association with other symptoms. An ambiguous genitalia was initially observed by the patient's mother in 51.6% of 62 cases despite the high rate (84.7%) of delivery in hospital. Seventeen (23.9%) of the cases had a gender reassignment at final diagnosis. A psychologist/psychiatrist or counselor was involved in the management of 23.9% of the patients. Conclusion The commonest presumed cause of DSD was ovotesticular DSD in contrast to western studies, which found CAH to be more common. Investigation of DSD cases is expensive and needs to be supported. We would have liked to do molecular genetic analysis outside the country but financial challenges made it impossible. A network for detailed diagnostics in resource-limited countries would be highly desirable. There is a need to train health care workers and medical students for early diagnosis. Psychological evaluation should be carried out for all patients at diagnosis and support given for families.

Gender self-identification and intra-family relations of children with disorders of sex development

The birth of a child with disorders of sex development (DSD) requires a long term surveillance and treatment strategy conducted by a multidisciplinary group of professional physicians, with a mandatory understanding of the psychosocial problems of the child and parents.Materials and methods. For the period from 2014 to 2018, a diagnosis of gender identity was conducted in 20 children and adolescents with DSD aged from 1.5 to 17 years. For the definition of gender identity, the methodology of Homunculus, gender socialization — the method of spontaneous drawing of Wartegg, internal family relations — the method My family, the method of structured interviews were used. The assessment of intra-family relations was conducted in comparison with the control group, which consisted of 28 families in which healthy children were raised. A molecular cytogenetic study was conducted for all patients with DSD before psychological evaluation.Results and discussion. Among the examined children, chromosomal DSD was diagnosed in 6 (35.29 %), 46,XY DSD — in 13 (65.0 %) and 46,XX DSD — in 1 (5.0 %) patients. Diagnosis of DSD was established for children of different ages ­ from birth to 16 years, on average, 7,26 [1,50; 13,00] years. In 60,0 % of children over the age of 7 years, signs of disorders of gender identity were detected, significantly more in children aged 7—12 (p < 0.05). Disordersof gender identity developed significantly more often in children who were registered in the female civil society — at 57.14 %. In the group of children with 46, XY DSD, signs of gender identity impairment were observed at 69.23 %, which is significantly more frequent than in patients with chromosomal DSD — in 50.0 % of cases (p < 0.05). In 25.0 % of families, children have often been criticized, and parents are negatively assessed, which impaired the formation of a child’s gender identity. 54.25 % of families with a child having DSD did not seek to give birth to subsequent children because of fear of genetic disorders in them. The frequency of divorces in the families of children with DSD increases with the age of children and the largest (30.0 %) in the group of patients olderthan 12 years (p < 0.05), which is significantly more in comparison with the control group (p < 0.05). Violations of intra-family relations in families of children with DSD are significantly more frequent than in the control group families (p < 0.05).Conclusions. The psychological support of children with DSD and their families is an important component of comprehensive medical and social rehabilitation.

STRATEGI COPING ORANGTUA YANG MEMPUNYAI ANAK DENGAN DISORDERS OF SEX DEVELOPMENT KROMOSOM SEKS MOSAIK

This study aims to explore coping strategies used by parents’ of children with mosaic sex chromosome Disorders of Sex Development (DSD). The study applied the sequential explanatory mixed-methods approach that collected quantitative data prior to qualitative data. Participants were parents of the affected patients diagnosed with DSD with the following karyotype XX/XY, X/XY, XYY, or XXY variants. In total, 14 mothers and 12 fathers of 14 patients with a mosaic sex chromosome DSD participated in this study. We used the Indonesian version of BRIEF COPE to collect quantitative data on coping strategies. Furthermore, an invidual interview was conducted to all participants to elaborate the coping strategies applied by parents in raising their children. The data analysis identified the four most preferred parental coping strategies: religion, positive reframing, acceptance, and active coping whereas the least preferred coping strategies were humor, substance use, and behavior disengagement. Mothers and fathers in the study did not significantly differ in applying their coping strategies (p&gt;.05). The study suggests health practitioners working with parents of patients affected with mosaic sex chromosome DSD to promote the religion, positive reframing, acceptance, and active coping strategies to facilitate a better acceptance of the affected children.

Disorders of Sex Development: A 10 Years Experience with 73 Cases from the Kashmir Valley.

Purpose:To present the clinical data, investigative profile, and management of patients with disorders of sex development (DSD) from the endocrine unit of a tertiary care university hospital.Materials and Methods:This retrospective study included 73 cases of DSD, evaluated and managed at Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Kashmir, over a period of 10 years from September 2008 to August 2018.Results:Twenty-nine patients (39.7%) had 46 XY DSD and twenty-nine patients (39.7%) had 46 XX. Sex chromosome DSD was diagnosed in 15 (20.5%) patients. Of 29 patients with 46 XY DSD, 17 (58.6%) had 5α-reductase type-2 deficiency (5α-RD) and 6 (20.7%) had complete androgen insensitivity syndrome. In our patients with 5α-RD, the history of consanguinity was documented in nine (52.9%) patients. Two patients had testosterone biosynthetic defect and one patient had partial androgen insensitivity syndrome. Of 29 patients with 46 XX DSD, 16 (55.1%) had congenital adrenal hyperplasia (CAH). Of 15 patients with sex chromosome DSD, 7 patients had Turner's syndrome, 7 had Klinefelter's syndrome, and 1 patient had mixed gonadal dysgenesis.Conclusion:In our study, equal number of patients had 46 XY DSD and 46 XX DSD. We are for the first time reporting from India that the most common cause of 46 XY DSD is 5α-RD, whereas CAH is the most common cause of 46 XX DSD as reported previously.

Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development

Disorders of sex development (DSD) are conditions with an abnormal development of chromosomal, gonadal, or anatomical sex. Sex chromosome DSD involve conditions associated with either numerical or structural abnormalities of the sex chromosomes. This study included patients comprising a wide spectrum of presenting features suggestive of DSD and aimed at studying the frequency of sex chromosome abnormalities among 108 Egyptian DSD patients who presented to the Clinical Genetics and Endocrinology Clinics, National Research Centre (NRC) over the 2-year period of 2013 and 2014. The age of the studied patients ranged from 2 months to 39 years. The patients exhibited various presentations, including ambiguous genitalia, undescended testis, hypogonadism, short stature with Turner manifestations, primary or secondary amenorrhea, primary infertility, edema of the dorsum of the hands and feet, and dysmorphic features. The patients were subjected to detailed clinical examination, pubertal staging, and cytogenetic analysis. Our study reported a wide karyotypic diversity and a high frequency of sex chromosome DSD, reaching 44.44% (48/108). In conclusion, we showed a high incidence of sex chromosome DSD among Egyptian DSD patients with wide karyotype/phenotype diversity. The most frequent sex chromosome DSD detected among patients of the present study was Turner syndrome and variants (52.08%; 25/48) followed by Klinefelter syndrome and variants (43.75%; 21/48). Further long term studies are necessary for accurate detection of frequencies of different types of sex chromosomal anomalies and associated phenotypes.

Disorders of sex development: a study of 194 cases

ObjectiveTo study the clinical profile and the management of patients with disorders of sex development (DSD).Design and settingRetrospective study from a tertiary care hospital of North India.Methods and patientsOne hundred ninety-four patients of DSD registered in the Endocrine clinic of Postgraduate Institute of Medical Education and Research, Chandigarh between 1995 and 2014 were included.ResultsOne hundred and two patients (52.5%) had 46,XY DSD and seventy-four patients (38.1%) had 46,XX DSD. Sex chromosome DSD was identified in seven (3.6%) patients. Of 102 patients with 46,XY DSD, 32 (31.4%) had androgen insensitivity syndrome and 26 (25.5%) had androgen biosynthetic defect. Of the 74 patients with 46,XX DSD, 52 (70.27%) had congenital adrenal hyperplasia (CAH) and eight (10.8%) had ovotesticular DSD. Five patients with sex chromosome DSD had mixed gonadal dysgenesis. Excluding CAH, majority of the patients (90%) presented in the post-pubertal period. One-fourth of the patients with simple virilising CAH were reared as males because of strong male gender identity and behaviour and firm insistence by the parents. Corrective surgeries were performed in twenty patients (20%) of 46,XY DSD without hormonal evaluation prior to the presentation.ConclusionCongenital adrenal hyperplasia is the most common DSD in the present series. Most common XY DSD is androgen insensitivity syndrome, while CAH is the most common XX DSD. Delayed diagnosis is a common feature, and corrective surgeries are performed without seeking a definite diagnosis.