Androgen insensitivity syndrome after preimplantation genetic diagnosis for sex selection: A case report (original) (raw)
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Androgen insensitivity syndrome: a review
Archives of endocrinology and metabolism
Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). The androgen receptor gene has 8 exons and 3 domains, and allelic variants in this gene occur in all domains and exons, regardless of phenotype, providing a poor genotype - phenotype correlation in this syndrome. Typically, laboratory diagnosis is made through elevated levels of LH and testosterone, with little or no virilization. Treatment depends on the phenotype and social sex of the individual. Open issues in the management of androgen insensitivity syndromes includes decisions on sex assignment, timing of gonadectomy, fertility, physcological outcomes and genetic counseling.
Complete Androgen Insensitivity Syndrome: A Rare Case of Prenatal Diagnosis
Revista Brasileira de Ginecologia e Obstetrícia / RBGO Gynecology and Obstetrics, 2021
With the widespread uptake of noninvasive prenatal testing (NIPT), a larger cohort of women has access to fetal chromosomal sex, which increases the potential to identify prenatal sex discordance. The prenatal diagnosis of androgen insensitivity syndrome (AIS) is an incidental and rare finding. We wish to present the diagnosis of a prenatal index case after NIPT of cell-free fetal DNA and mismatch between fetal sex and ultrasound phenotype. In this particular case, the molecular analysis of the androgen receptor (AR) gene showed the presence of a pathogenic mutation, not previously reported, consistent with complete androgen insensitivity syndrome. Carrier testing for the mother revealed the presence of the same variant, confirming maternal hemizygous inheritance. Identification of the molecular basis of these genetic conditions enables the preimplantation or prenatal diagnosis in future pregnancies.
Androgen Insensitivity Syndrome: Drawbacks of the Medical Services
Biomedical Journal of Scientific & Technical Research
Androgen Insensitivity Syndrome (Testicular Feminization Syndrome, Morris syndrome), except for occasional spontaneous mutations, is an X-linked recessive genetic disorder that markedly influences sexual development in utero, during puberty and beyond with significant degree of feminization and reciprocally undermusculinzation of the extertnal genitalia. They usually have external female sex characteristics, male or ambiguous sex development. They do not have ovaries and the Mullerian structures that include the tubes, uterus, cervix and upper part of the vagina. Therefore, they do not ovulate nor gestate and bear a child contrary to the expectation of otherwise a phenotypically full-blown woman.
Endocrine Journal, 2017
With advancing maternal age, the number of prenatal genetic tests is increasing in many countries. Prenatal genetic tests, such as amniocentesis, chorionic villus sampling and non-invasive prenatal testing, can disclose fetal chromosomal sex, although these tests were originally designed to prenatally diagnose chromosomal aneuploidies, such as trisomy 21, 18 and 13. Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder caused by an androgen receptor dysfunction leading to hormone resistance. The affected individuals are genetic males as shown by 46,XY but present complete female external genitalia and normal breast development at puberty albeit without menstruation. CAIS is commonly diagnosed in adolescence based on primary amenorrhea or in childhood based on inguinal hernia or testis-like masses in the inguinal region. In the present report, we describe a baby in whom CAIS was diagnosed immediately after birth based on a mismatch between the fetal karyotype detected by amniocentesis and the external genitalia phenotype at birth. We speculate that the increase in the number of prenatal genetic tests is contributing to the early detection of 46,XY disorders of sex development, especially those previously called complete sex reversal, which is supposedly diagnosed during childhood or adolescence. Hence, it is necessary to understand the disease-specific hormone profile at each developmental stage for accurate diagnosis.
46 XY, Female. Complete androgen insensitivity syndrome: a case report
Journal of Education, Health and Sport
Introduction: Androgen insensitivity syndrome (AIS) is an inherited disorder of sexual development caused by mutations in the androgen receptor encoding gene. Case report: A female patient born in 1984, at the age of 17, was diagnosed with complete androgen insensitivity syndrome, during the diagnosis of primary amenorrhea. She was assigned grade 7 in the Quigley scale. Cytogenetic analysis showed a 46 XY karyotype. Gynecological examination revealed a blind ending vagina and a lack of uterus. Physical examination revealed normal breast development and scanty pubic and axillary hair. The patient kept seeing herself as a woman. At the age of 18, the patient underwent laparoscopic gonadectomy. After the procedure, the patient was under medical supervision and was taking orally 1 mg of estradiol daily. At the age of 24 patient was diagnosed with. The patient received sodium alendronate and ibandronic acid. The level of FSH was 35.50 mlU / ml and LH was 13.05 mlU/ml. Discussion: Quigley...
Challenges in clinical and laboratory diagnosis of androgen insensitivity syndrome: a case report
Journal of Medical Case Reports, 2011
Introduction Androgen is a generic term usually applied to describe a group of sex steroid hormones. Androgens are responsible for male sex differentiation during embryogenesis at the sixth or seventh week of gestation, triggering the development of the testes and penis in male fetuses, and are directed by the testicular determining factor: the gene SRY (sex determining region on Y chromosome) located on the short arm of chromosome Y. The differentiation of male external genitalia (penis, scrotum and penile urethra) occurs between the 9th and 13th weeks of pregnancy and requires adequate concentration of testosterone and the conversion of this to another more potent androgen, dihydrotestosterone, through the action of 5α-reductase in target tissues. Case presentation This report describes the case of a teenage girl presenting with a male karyotype, and aims to determine the extension of the mutation that affected the AR gene. A Caucasian girl aged 15 was referred to our laboratory f...
Androgen Insensitivity Syndrome: A rare genetic disorder
International Journal of Surgery Case Reports, 2020
BACKGROUND: Androgen Insensitivity Syndrome (AIS) is a rare X-linked recessive androgen receptor (AR) disorder with 46XY karyotype. Partial AIS affects 5-7 per 1,000,000 genetically male individuals whereas Complete AIS affects 2-5 per 100,000 genetically male individuals. CAIS CAIS is characterized by complete resistance to the action of androgens. PRESENTATION OF CASE: 17-year patient presented with swelling in bilateral inguinal region. Patient also complained of primary amenorrhea with serum FSH and LH levels being raised, serum testosterone level much above normal range. MRI Pelvis revealed agenesis of vagina, uterine body, both ovaries and cervix. Bilateral testes were noted in bilateral superficial inguinal ring. Bilateral orchidectomy was done and the patient was advised estrogen substitution therapy. DISCUSSION: CAIS is usually diagnosed at puberty, when the patient presents with primary amenorrhea. Karyotype has to be mapped in order to differentiate from other genetic disorders. Orchidectomy should be done to avoid risk of malignancy of undescended intra-abdominal testes (3.6 % at 25 years old, and 33 % at 50 years old, reported by various studies). Hormonal substitution therapy should be administered. Comprehensive psychiatric assessment and intervention go a long way in alleviating distress and enhancing quality of life. CONCLUSION: Androgen Insensitivity Syndrome requires expert and sympathetic handling. Close collaboration between surgeon, gynaecologist and psychologist is essential for proper management of complete androgen insensitivity syndrome.
Complete androgen insensitivity syndrome: Review of four cases
Central European Journal of Medicine, 2012
Background: The Detection of the Complete Androgen Insensitivity Syndrome is not simple since diagnostic can start from different points, depending on clinical features. Case Presentation: Four cases of complete androgen insensitivity syndrome are presented through diagnostic modalities and therapeutic approaches. The initial reasons for investigation were as follows: prenatal amniocentesis being in conflict with the postnatal phenotype, secondary clinical finding, testicle finding during hernia repair, and post pubertal primary amenorrhea. Complete chromosomal, hormonal and ultrasonographical investigations were performed in all patients. Laparoscopy or open inguinal approaches were performed for gonadectomy in all patients, and the microscopic finding was testicular tissue without malignancy. Conclusion: Complete Androgen Insensitivity Syndrome is a type of male pseudohermaphroditism that could be diagnosed as early as in pre-adult age, before any malignant changes appear, and early enough to reach the correct therapy in time.