Group Of Congenital Conditions Research Articles

Abstract 17997: Contemporary Trends in Coronary Artery Anomalies

Introduction: Coronary artery anomalies (CAA) are a group of congenital conditions whose prognostic significance is still widely debated. In part, this is due to the limited data on CAA, given its general incidental nature. Data on age, gender, and ethnic disparities is even more scarce. Hypothesis: There is an increase in prevalence of CAA over time with unchanged difference in mortality. Methods: The National Inpatient Sample (NIS) database was queried between 2016-2019 to identify hospitalizations with CAA. The primary outcome was in-hospital mortality. Secondary outcomes included type of hospital, region, age, and complications. Linear regression and Chi-squared were used for analysis. Results: Our study identified 7,821 patients diagnosed with CAA. There was a significant increase in the prevalence of CAA from 1,961 in 2016 to 2,127 in 2019 (p<0.001). However, no significant difference in mortality rate (1.89% to 2.05%) in this time period was identified. The average age of the population diagnosed with CAA was 50.4 years, which was not significantly different between the study time periods. Comparing races, 62.35% of those with coronary anomalies were white, 17.54% were African American, 12.1% were Hispanic, and 3.11% were Asians or Pacific Islanders. Of note, 4.14% of those with CAA were diagnosed in a rural hospital, 14.68% in an urban non-teaching hospital, and 81.18% in a teaching hospital. This is a significant difference compared to the percentage composition of each hospital within the database. Conclusions: With recent advances in imaging technology, CAA has been detected at earlier stages, allowing for early intervention. However, our study suggests that CAA may still be under diagnosed, given that most were diagnosed at resource heavy teaching hospitals. In addition, the number of minorities diagnosed with CAA increased during the study period, suggesting disparities that exist and will continue to be addressed as access to modern medicine improves. Despite having a low mortality rate, the mortality rate did not improve over the study period. This highlights the need for further studies to identify challenges in diagnosis and management of CAA, especially regarding ethnic and racial disparities.

Prenatal testing for imprinting disorders: A clinical perspective.

Imprinting Disorders (ImpDis) are a group of congenital conditions caused by aberrant imprinting resulting in disturbed expression of parentally imprinted genes. ImpDis are rarely associated with major malformations, but pre- and/or postnatal growth and nutrition are often affected. In some ImpDis, behavioral, developmental, metabolic and neurological symptoms might present in the perinatal context or later in life, and in single ImpDis there is a higher risk of tumors in childhood. Prognosis depends in part on the molecular cause of each ImpDis, but due to high clinical variability and (epi)genetic mosaicism, predicting the clinical outcome of a pregnancy solely based on the underlying molecular disturbance is difficult. Therefore, interdisciplinary care and treatment approaches play an important role in the management and decision making of affected pregnancies, especially taking into account fetal imaging in addition to genetic findings. Prenatal findings influence perinatal management, and thereby improve the prognosis of ImpDis associated with severe but sometimes transient clinical complications in the neonatal period. Therefore, prenatal diagnosis can be crucial for appropriate management not only of the pregnancy itself but might also have a life-long effect. This article is protected by copyright. All rights reserved.

Gender assignment in disorders of sex: An Islamic perspective from Saudi Arabia

Genital ambiguity, is defined as a group of congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical. It constitutes a major social emergency and the decision making in relation to sex assignment has been perceived as an extremely disturbing and difficult to both families and health care professionals. It can also be a medical emergency as it may lead to life-threatening adrenal crisis. Each patient should be evaluated individually by a well-coordinated experienced multidisciplinary team of specialists in a higher center capable of managing such disorders. The team should include a geneticist, neonatologist, endocrinologist, pediatric surgeon, urologist, psychiatrist and psychologist, a social worker, and other specialists such as a nurse, and gynecologist to be consulted whenever needed. The estimated incidence was found to be approximately 0.1% to 0.2% worldwide i.e, 1:4500-5000 live birth. The 46XX is the most common cause, while the majority of these patients congenital adrenal hyperplasia (CAH) is the most underlying aetiology. The 46XY DSD is a heterogeneous disorders that often result from a disruption in the production or response to testosterone, dihydrotestosterone, or Mullerian inhibitory substances. Chromosomal DSD includes condition resulting from abnormal meiosis, including Klinefelter syndrome (47XXY) and Turner syndrome. The evaluation of patients with sex disorders requires a through history, physical examination, karyotype, serum electrolytes, and specific hormones, such as 17-OH-progesterone.The pediatric radiologist has a major role in diagnosis. In Saudi Arabia, a general guidelines were suggested by the council of senior ulama to manage patients with DSD in accordance with the islamic laws. This should be the practice in other muslim countries. Health professionals need to be aware of the existence of such recommendation for a better care of patients.

‘It was Supposed to be a Secret’: a study of disclosure and stigma as experienced by adults with differences of sex development

ABSTRACT Background Differences of sex development (DSD) are a group of congenital conditions that involve variations in sex chromosomes, genes, external and/or internal genitalia, hormones, and secondary sex characteristics. The present study sought to highlight the everyday challenges faced by adults with DSD as well as to understand how issues such as disclosure, information sharing, and stigma affect their daily life. Method We applied an interpretative phenomenological study design to explore the first-person perspectives. Semi-structured qualitative interviews of 15 adults aged 30–70 years living in Norway with five different DSD conditions (Turner syndrome, Klinefelter syndrome, congenital adrenal hyperplasia, Mayer-Rokitansky-Küster-Hauser syndrome and hypospadias) were analyzed using reflexive thematic analysis. Results Living with DSD, indicated doing a balancing act between hiding and/or exposing what participants perceived differed from others bodies. Communication regarding sensitive topics proved to be important. The participants were doing invisible work to manage the balance between concealing and revealing their feeling of differentness, a work effort that was not necessarily perceivable to others but still affected everyday life of the participants. Furthermore, the participants’ experiences of disclosure changed over time, as those who were diagnosed during childhood found that disclosure became easier with advancing age. However, being diagnosed as an adult seemed to increase the feeling of difference and complicate disclosure. Conclusion Individuals with DSD should receive adequate information and have someone to practice disclosure towards, which could possibly strengthen the psychosocial aspects of living with their condition. The results emphasize the need to help individuals with DSD achieve a balance between disclosure and self-protection, overcome stigma, and determine when and how information about their DSD should be provided to others.

Differences of sex development in the newborn: from clinical scenario to molecular diagnosis.

Differences/disorders of sex development (DSD) are defined as a group of congenital conditions in which the development of chromosomal, gonadal or anatomical sex is atypical. The incidence of DSD is 1:4500 births. The current classification divides DSDs into 3 categories according to chromosomal sex: 46,XX DSD, 46,XY DSD and sex chromosome DSD. DSD phenotypes can be concordant with the genotype (apparently normal external genitalia associated with gonadal dysgenesis), or can range from simply hypospadias to completely masculinised or feminised genitalia with a discordant karyotype. Numerous genes implicated in genital development have been reported. The search of genetic variants represents a central element of the extended investigation, as an improved knowledge of the genetic aetiology helps the immediate and long-term management of children with DSDs, in term of sex of rearing, hormone therapy, surgery, fertility and cancer risk. This review aims to assess the current role of molecular diagnosis in DSD management.

46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report

Disorder of Sexual Development (DSD) is a group of congenital conditions with atypical development of sex at chromosomal, gonadal or anatomic level. Genetic males with DSD (46 XY DSD) can present with female external genital phenotype, ambiguous, or a micropenis. It is caused by incomplete intrauterine masculinization with or without the presence of Müllerian structures. It results either from decreased synthesis of testosterone or DHT or from impairment of androgen action. Herein, we report a case of a 13-year child raised as female with hoarseness of voice and gradual enlargement of clitoris with hormonal assessment not suggestive of either 5 Alfa Reductase deficiency, Congenital Adrenal Insufficiency Syndrome or 17β-Hydroxysteroid Dehydrogenase deficiency

Disorders of sex development

Normal sex development depends on the precise spatio-temporal sequence and coordination of mutually antagonistic activating and repressing factors. These factors regulate the commitment of the unipotential gonad into the binary pathways governing normal sex development. Typically, the presence of the SRY gene on the Y chromosome triggers the cascade of molecular events that lead to male sex development. Disorders of sex development comprise a heterogeneous group of congenital conditions associated with atypical development of internal and external genitalia. These disorders are generally attributed to deviations from the typical progression of sex development. Disorders of sex development can be classified into several categories including chromosomal, gonadal, and anatomic abnormalities. Genetic tools such as microarray analyses and next-generation sequencing techniques have identified novel genetic variants among patients with disorders of sexual development. Most importantly, patient management needs to be individualized, especially for decisions related to sex of rearing, surgical interventions, hormone treatment, and potential for fertility preservation.