جستجوی مقالات مرتبط با کلیدواژه "ambiguous genitalia" در نشریات گروه "پزشکی"

A mismatch between chromosomal, gonadal, and phenotypic sexes in individuals with androgen insensitivity syndrome (AIS) creates problems in sex assignment and psychosexual identification.

To identify psychosexual and sex assignment peculiarities of individuals with different forms of AIS.

In this qualitative study, 41 individuals with AIS aged between15-31 yr who referred to the Universe Center for Reproductive Medicine Tbilisi, Georgia between 2016 and 2021 were studied. All individuals underwent clinical, genealogical, hormonal, ultrasonographic, and cytogenetic examinations. In-depth interviews and medical records assessed psychosexual profiles and sex assignment histories.

32 cases were diagnosed with the complete form of AIS (CAIS), 8 individuals with the partial form (PAIS), and one with a mild form (MAIS). Individuals with CAIS and PAIS were assessed at birth and raised as girls. Individuals with CAIS and female psychosexual disposition were referred to us due to amenorrhea. Adolescent individuals with PAIS assessed as girls referred to us due to masculinization detected in puberty. An individual with MAIS was assessed at birth and raised as a boy with male genitalia. All individuals with AIS had typical hormonal data and sex chromosome complex for men. 20 sexually active individuals with CAIS had penile-vaginal contact with the man. None of the individuals with CAIS and PAIS thought about gender reassignment after being diagnosed, only the individual with MAIS aimed for male-to-female transition.

Psychosexual identification remains a significant challenge in AIS management. Detection of female psychosexual disposition in one participant that is unusual to MAIS may be associated with somatic mosaicism of the androgen receptor gene.

Ambiguous genitalia disorder is an uncommon situation that happens between 1 per every 4,500 live births and falls into disorders of sexual development. In general, the reproductive system is made up of Wolff and Müllerian tubes. In the male fetus, the SRY gene promotes testicular development. The testes then produce androgens, testosterone, and dihydrotestosterone, leading to the development of the male reproductive system and, at the same time, preventing the growth of the female reproductive system by preventing the growth of the molar tubes. The development of the female reproductive system also occurs under the control of two genes, DAX1 and WNT4, which prevent the development of testicles in girls. Disorder of sex development (DSD) is defined as a congenital mismatch between sex phenotype, gonadal, and sex chromosome, which mainly present with atypical genital appearance or ambiguous genitalia. Enlarged clitoris, untouched testicles, bifurcated scrotum are some of the obvious symptoms of sexual ambiguity. This disorder is a tragic and very sad event and a serious illness that imposes deep emotional and psychological worries on the family. Therefore, it is necessary to adopt immediate and rational management with clinical, hormonal, genetic, molecular and radiographic research to determine the cause and treatment approach. True sexual ambiguity refers to a condition in which a person has both ovarian and testicular tissue, in which the external genitalia show all the intermediate degrees of male to female. During puberty, the signs of masculinity and femininity occur in various forms, and about two-thirds of people have the XX 46 karyotype, one-tenth the XY 46 karyotype, and the rest have chromosomal mosaicism. Psuedosexual ambiguity is based on two types of false feminine and masculine false. A person with a female pseudosexual ambiguity shows some masculine characteristics and falls into different categories, each of which appears due to a lack of a specific enzyme with its own clinical symptoms. The most common of these is congenital adrenal hyperplasia, which occurs due to a deficiency of the enzyme 21-hydroxylase and is the most common cause of sexual ambiguity in infants. A male pseudosexual ambiguity is a person in whom the sinuses are exclusively testicular but the external genitalia appear as female or male that is not completely differentiated. In this article, a late term neonate with ambiguous genitalia, born of a 19-year-old mother, was reported. On initial examination by a pediatrician, micro penis and empty scrotum like labia was observed. The pediatrician emphasized the importance of determining the sex of the baby at the right time, trying to educate the babychr('39')s family to perform cytogenetic tests to prepare a karyotype first and then check the hormonal profile and finally determine the appropriate sex for them, through counseling It was done with the relevant specialists. At present, patients with ambiguous genitalia due to the management of sexual development disorders (DSD) as a result of classification of disorders and the availability of adequate cytogenetic facilities have a better chance than before for rapid diagnosis, appropriate treatment and reconstruction of the genital tract through surgery. In addition, early detection of the disease is the best course of action, which can be done by genetic counseling to examine the exact history of the disorder in relatives, the relationship between parents and other developmental disorders in other children in the family.

Congenital adrenal hyperplasia is the most common cause of ambiguous genitalia, which can be obscured by ambiguous genitalia, weight loss, and premature pubarche. Therefore, this study aimed to evaluate the demographic characteristics and clinical findings of patients with congenital adrenal hyperplasia. In this cross-sectional study, 161 patients with congenital adrenal hyperplasia participated. All patients were followed up, and anthropometric findings of clinical examinations and paraclinical findings were accurately recorded in the files, and extracted from the records. Findings: 142 cases of deficiency of 21-hydroxylase deficiency (21-OHD), 10 cases of 3β-hydroxysteroid dehydrogenase (3β-HSD), 7 cases of 11-hydroxylase deficiency (11-OHD), and 2 cases of steroidogenic acute regulatory protein (StAR) were studied. 69 patients were boys and 92 were girls, with an average age of 9.39 ± 5.61 years. The prevalence of macropenia was 22.4%, as well as clitoromegaly 33.5%, ambiguous genitalia 14.3%, hirsutism 5.0%, premature facial hair loss 5.6%, and premature puberty 11.8%; and mean age of puberty was 8.89 ± 2.48 years. Based on the clinical findings, in children with ambiguous genitalia, macropenia, clitoromegaly, hirsutism, premature facial hair growth, and premature puberty, we should consider congenital adrenal hyperplasia.

Congenital Adrenal Hyperplasia(CAH) includes a group of inherited diseases which are caused by enzyme defects in the synthesis of cortisol from cholesterol. It manifests itself in different forms like ambiguous genitalia, adrenal crisis in infants, precocious puberty in children, hirsutism, oligomenorrhea and infertility in adults. Although CAH is one of the most common endocrine congenital diseases, some patients are not identified, or may even die of adrenal crisis without being diagnosed. Considering the prevalence and diversity of clinical manifestations of CAH and numerous diagnostic problems, the objective of this study is to identify and determine the frequency of clinical manifestations and different types of CAH in order to introduce them to medical community and facilitate diagnosis of CAH and its early treatment. In this observational-descriptive study, we observed the frequency of clinical manifestations and different types of enzyme defects in patients with CAH who had referred to the institute of endocrinology and metabolism during the period of 10 years from 1370-1380. 19 patients including 11 girls(58%) and 8 boys(42%) were under examination. Patients were categorized into 3 groups infants(5 boys and 5 girls), children(3 boys) and adults(6 girls). These patients had manifested ambiguous genitalia and/or adrenal crisis, premature puberty, acne and hirsutism respectively. The average age of girls and boys with salt loss type of CAH at the time of diagnosis was 17.3 and 43.5 days respectively. The most common clinical manifestations were ambiguous genitalia(42.1%), ambiguous genitalia and adrenal crisis(31.5%), acne and hirsutism(31.5%) and peripheral precocious puberty(15.7%). The incidence of different types of enzyme defects was 14 patients(73.7%) with 21-hydroxylase deficiency, 4 patients(21%) with 3-beta hydroxysteroid dehydrogenase deficiency and 1 patient(5.2%) with 11-hydroxylase deficiency. Congenital Adrenal Hyperplasia(CAH) should be taken into consideration in infants with ambiguous genitalia, hyponatremia and hyperkalemia and also in every boy with peripheral precocious puberty. The diagnosis of CAH is established in girls more and earlier than boys. The most common types of CAH in our patients were 21-hydroxylase deficiency, 3-beta hydroxysteroid dehydrogenase deficiency and 11-hydroxylase deficiency respectively. Therefore, for an early diagnosis and prevention of infants death(especially boys) due to adrenal crisis, incorrect gender assignment and inappropriate virilisation, neonatal screening and greater awareness of medical community about the disease seem to be necessary.