China
Africa
Explore chapters and articles related to this topic
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.
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.
A rare enzymatic defect, true isolated 17,20-lyase deficiency leading to endocrine disorders and infertility: case report
Published in Gynecological Endocrinology, 2020
Jamileh Afsar, Ali Kachuei, Mahin Hashemipour, Amir Larki-Harchegani, Somayeh Shabib
The clinical symptoms of isolated ILD, in affected 46,XY individuals are related to male pseudohermaphroditism with feminized, ambiguous, or moderately underdeveloped external genitalia, as a consequence of impaired synthesis of androgens (testosterone) in the testes. In 46,XY cases of partial ILD, because of low levels of androgen, which leads to a lack of suppression of estrogen synthesis, low virilization and gynecomastia up to Tanner stage V are evident clinical events [8].
Genetic defect of a combined 17 α-hydroxylase/17,20-lyase deficiency patient with adrenal crisis
Published in Gynecological Endocrinology, 2018
Yunqiang Zhang, Xuyin Zhang, Yiqun Wang, Keqin Hua, Jingxin Ding
Combined 17 α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive disease that accounts for 1% of cases of congenital adrenal hyperplasia (CAH), the incidence of which ranges from 1:10,000 to 1:20,000 births [1,2]. 17OHD is mainly caused by mutations in the CYP17A1 gene, including missense mutations, nonsense mutations, insertions, deletions and splice site defects (www.hgmd.cf.ac.uk/ac/gene.php?gene=CYP17A1). The CYP17A1 gene (NM_000102) is located on chromosome 10q24.3, and comprises eight exons spanning 8637 bp. Biglieri [3] first described 17OHD in 1966 and Kagimoto [4] first reported a CYP17A1 gene mutation in 1988. Since then, over 100 mutations in the CYP17A1 gene have been associated with 17OHD (OMIM 202110) [5–12]. CYP17A1 encodes P450c17, which is located in the endoplasmic reticulum and is expressed in the adrenal cortex and gonads. P450c17 has both 17α-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway. In the adrenal glands of 17OHD patients, a deficiency of P450c17 enzyme activity decreases cortisol synthesis and stimulates ACTH secretion via hypothalamic–pituitary–adrenal axis negative feedback. As a result, mineralocorticoid11-deoxycorticosterone (DOC) accumulates and patients present clinically with hypertension and hypokalemia. They do not experience clinical glucocorticoid insufficiency because this abnormally high corticosterone level acts as a source of glucocorticoid activity. In the gonads, reduced P450c17 inhibits sex hormone production and causes more secretion of FSH and LH by the lack of hypothalamic–pituitary–gonadal axis negative feedback inhibition, which causes sexual infantilism, primary amenorrhea in females (46,XX) or pseudohermaphroditism in males (46,XY). This male pseudohermaphroditism might feature palpable testes in the inguinal regions along with female or ambiguous genitalia due to complete or partial deficiency of 17alpha-hydroxylase and 17,20-lyase activity [13,14].