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Surgical treatment of disorders of sexual development
Published in Mark Davenport, James D. Geiger, Nigel J. Hall, Steven S. Rothenberg, Operative Pediatric Surgery, 2020
Rafael V. Pieretti, Patricia K. Donahoe
Male pseudohermaphroditism occurs in 46,XY genetic males with deficient masculinization of the external genitalia due to insufficient testosterone production, conversion, or inadequate target organ response. Many patients with male pseudohermaphroditism have been raised as males. However, if the female gender is chosen, gonadectomy should be done at the time of perineal reconstruction. The patient with an absent or rudimentary vagina usually requires only a clitoroplasty and labioscrotal reduction. The labioscrotal folds should be partially reduced during the first procedure and dilatation or a substitute vaginoplasty planned for the late adolescent or early adult years. Patients with testicular feminization in whom an introitus is often present may have this dilated with bougies at a later age to form a functional vagina.
Associated disorders
Published in Steve Hannigan, Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
Symptoms of this disorder include progressive kidney disease (often leading to kidney failure during the first 3 years of life) and Wilms’ tumour, which is the commonest form of childhood kidney cancer. This can be detected by poor appetite, abdominal pain and swelling, a hernia protruding through the abdominal wall, blood in the urine, fever, pallor and/or lethargy. Male pseudohermaphroditism is also a major symptom. This is characterised by incomplete development of the testes and external sexual organs, which are either not identifiable as entirely male or female, or are completely female. These males may not develop external sexual organs until puberty. Individuals affected by Drash syndrome may develop malignancies of the testes or ovaries. Screening of these areas will determine this. Some patients may develop a blockage in the tubes that carry urine from the kidney to the bladder, causing a backflow of urine from the bladder (hydronephrosis).
Miscellaneous
Published in Giuseppe Micali, Pompeo Donofrio, Maria Rita Nasca, Stefano Veraldi, Vulval Dermatologic Diagnosis, 2015
Maria Rita Nasca, Giuseppe Micali
Epidemiology: Developmental abnormalities of the female genital tract are rare. Female pseudohermaphroditism accounts for 80% of ambiguous genitalia, whereas male pseudohermaphroditism occurs in approximately 15% of cases.
Disorders or Differences of Sex Development? Views of Affected Individuals on DSD Terminology
Published in The Journal of Sex Research, 2021
Elena Bennecke, Birgit Köhler, Robert Röhle, Ute Thyen, Katharina Gehrmann, Peter Lee, Anna Nordenström, Peggy Cohen-Kettenis, Clair Bouvattier, Claudia Wiesemann
Overall, only a minority objected to the term Disorders of Sex Development. It may be advantageous for individuals with these rare conditions if their condition is classified as Disorders of Sex Development. Umbrella terms and classifications facilitate communication about different conditions; a consistent use, for example, between researchers and clinicians can render communication more precise and therefore improve clinical care and research. It can increase visibility and, thus, help to provide support for persons concerned. This might explain our observation that persons with rarer conditions tend to evaluate Disorders of Sex Development more positively. For individuals, there may also be a positive sense of belonging to a larger group with similar concerns. Disorders of Sex Development as an umbrella term may come as a relief because it implies that individuals have a condition “like many others” have – not a condition like “no one else” has (Feder, 2009). Also, participants with conditions with partial prenatal androgen effects might favor the term Disorders of Sex Development since it replaced even more controversial terms such as pseudohermaphroditism or hermaphroditism.
A new compound heterozygous mutation in a female with 17α-hydroxylase/17,20-lyase deficiency, slipped capital femoral epiphysis, and adrenal myelolipoma
Published in Gynecological Endocrinology, 2019
Fan Yang, Yongting Zhao, Jie Lv, Xia Sheng, Lihong Wang
Previous studies have shown that 17-OHD is caused by a mutation in the cytochrome P450 family 17 subfamily A member 1 (CYP17A1) gene. The deficiency in this enzyme results in the reduction of glucocorticoids and sex hormones, accompanied by the accumulation of mineralocorticoids. Patients present with hypertension, hypokalemia, and hypergonadotropic hypogonadism. Females are usually sexually immature, and males exhibit pseudohermaphroditism. Females with 17-OHD are normally considered infertile even though occasional exceptions exist and have recently been reported [3]. Due to sex hormone deficiency, epiphyseal arrest is delayed, and the patient’s final height is usually increased [4–6]. Previous studies have shown that sex hormone deficiency disorders are associated with slipped capital femoral epiphysis (SCFE), which rarely occurs in adults [7–9]. However, SCFE has not been reported in 17-OHD patients to date. Moreover, adrenal myelolipoma (AML) is a benign adrenal tumor, which consists of extramedullary hemopoietic tissues and mature adipose tissues. At present, there are a few reports of 17-OHD associated with AML, but the pathogenesis of CAH leading to AML is not yet clear.
Familial Swyer syndrome: a rare genetic entity
Published in Gynecological Endocrinology, 2018
Manilal Banoth, Ramana Reddy Naru, Mohammed Basheeruddin Inamdar, Amit Kumar Chowhan
Swyer syndrome or 46, XY complete gonadal dysgenesis (46, XY CGD) is a disorder of sex development in which the individual is 46, XY in genotype but phenotypically a female. This entity was first recognized in 1955 when Gim Swyer described two cases ofsex reversal that differed from the known forms of what was then termed "male pseudohermaphroditism". The two women had a 46, XY karyotype and had primary amenorrhea, tall stature, female external genitalia and normal vagina and cervix [1]. This condition was later linked to dysgenetic gonads and is also known as CGD [2]. These individuals are typically raised as females and have a female gender identity. Swyer syndrome has been estimated to occur in approximately in 1 in 1,00 000 people [3]. 10%-20% of women with the syndrome have a deletion in the DNA-binding region of the SRY gene 2 while in the remaining 80%–90% of cases, the SRY gene is normal and mutations in other testis determining factors are probably implicated. Patients with Swyer syndrome show hypergonadotropic hypogonadism with low levels of estrogens and normal female levels of androgens and they usually present with primary amenorrhea and delayed puberty. The syndrome may also present in late adulthood with gonadal tumors, typically dysgerminoma. We report familial Swyer syndrome which is rare, we could find one case report with 2 sisters of the same family with primary amenorrhea having Swyer syndrome [4]. Ours is the first documented data where three sisters of the same family had Swyer syndrome with three different genotypes and eldest sister had succumbed to advanced ovarian cancer, second case had dysgerminoma ovary which is the index case and the third sibling also has primary amenorrhea.