UNASSIGNED: To highlight the challenges in diagnosing 46, XY disorder of sex development related to MYRF mutation.
UNASSIGNED: We present an unusual case of a 12-year-old female child came for enlargement of clitoris and initially diagnosed as partial androgen insensitivity syndrome (AIS).
UNASSIGNED: On examination, the patient\'s vulva was found virilized with 3cm-long clitoris. Her peripheral blood karyotype was 46, XY. The ultrasound showed an empty pelvis and hormone results confirmed hyperandrogenism. Therefore, the partial AIS was suspected, but the following whole exon sequencing indicates a pathological missense mutation in MYRF. Further investigation and surgery did not reveal any brain, heart, lung or diaphragm lesions related to MYRF, but only maldeveloped internal genitalia and a persistent urachus. Her serum testosterone dropped to normal after surgical removal of the remaining ipsilateral testis and epididymitis without spermatogenesis as shown by pathology.
UNASSIGNED: Due to the karyotype, hyperandrogenism, empty pelvis but a virilism after puberty, the patient was initially diagnosed as partial AIS. This misleading clinical diagnose will not be verified as the MYRF mutation if without the whole exon sequencing, particularly in the absence of obvious brain, heart, lung and diaphragm lesions as in this case.

OBJECTIVE: Androgen insensitivity syndrome (AIS) is a disorder characterized by peripheral androgen resistance due to androgen receptor mutations in subjects with 46 XY karyotype. The severity of hormone resistance (complete, partial or mild) determines the wide spectrum of phenotypes.
METHODS: We performed a literature review on Pubmed focusing on etiopathogenesis, molecular alterations, and diagnostic-therapeutic management.
RESULTS: AIS is determined by a large variety of X-linked mutations that account for the wide phenotypic spectrum of subjects; it represents one of the most frequent disorders of sexual development (DSD). Clinical suspicion can arise at birth in partial AIS, due to the presence of variable degrees of ambiguity of the external genitalia, and at pubertal age in complete AIS, due to the development of female secondary sex characteristics, primary amenorrhea, and absence of female primary sex characteristics (uterus and ovaries). Laboratory tests showing elevated LH and testosterone levels despite mild or absent virilization may be helpful, but diagnosis can be achieved only after genetic testing (karyotype examination and androgen receptor sequencing). The clinical phenotype and especially the decision on sex assignment of the patient, if the diagnosis is made at birth or in the neonatal period, will guide the following medical, surgical and psychological management.
CONCLUSIONS: For the management of AIS, a multidisciplinary team consisting of physicians, surgeons, and psychologists is highly recommended to support the patient and his/her family on gender identity choices and subsequent appropriate therapeutic decisions.

Complete androgen insensitivity syndrome (CAIS) is a rare disease that can be easily misdiagnosed. Before puberty, this condition is easily misdiagnosed as an inguinal hernia. This case report describes a 31-year-old phenotypically female patient with CAIS who was misdiagnosed twice previously with an inguinal hernia. Her karyotype analysis showed that she was 46, XY. She underwent a bilateral gonadectomy and long-term hormone replacement therapy. A Leydig cell tumour of the right testis was diagnosed postoperatively. This report also reviews the current understanding of the diagnosis and treatment of CAIS.

Background: Androgen insensitivity syndrome (AIS) is a disorder of sexual differentiation caused by complete or partial resistance to the biological action of androgens. The common malignant tumors associated with this syndrome are seminomas. However, the risk of malignancy in childhood remains low. Case Report: A 8-month-old child with a female phenotype and a 46, XY karyotype, presented with bilateral inguinal hernia. The patient underwent right radical inguinal orchiectomy with high ligation of the spermatic cord and laparoscopic percutaneous extra-peritoneal herniorrhaphy. Final pathology confirmed a pure yolk sac tumor (YST) from the right testis. Androgen receptor (AR) gene mutation was found in the children. The follow-up ultrasonography shown no recurrence, with serum AFP returned to normal within 3 months. Conclusion: The case we presented is relatively infrequent in the literature with yolk sac tumor in a AIS children presented with a palpable lump inguinal region.

The article describes one of the forms of 46 XY DSD which is related to androgen peripheral actions. There are two disorders related to DSD with preserved testosterone production by the testes, which are Androgen insensitivity syndrome (AIS) and type 5α-reductase deficiency. Although the above-mentioned conditions have similar clinical manifestations, they are initiated by different pathogenetic mechanisms. AIS has X-linked recessive inheritance pattern and is presented by total or partial insensitivity of androgen receptors to male sex hormones.

OBJECTIVE: To summarize the self-reported sexual experiences of women with vaginal agenesis before treatment and discuss the clinical implications.
METHODS: A retrospective review of pretreatment baseline sexuality data and medical records of women with vaginal agenesis seeking vaginal construction.
METHODS: A specialist multidisciplinary center for women with genital differences associated with diverse sex development.
METHODS: One hundred thirty-seven women with untreated vaginal agenesis associated with Mayer-Rokitansky-Küster-Hauser Syndrome and complete androgen insensitivity syndrome aged 15 to 41 years (mean age, 20 years).
METHODS: Gynecological examination and completion of questionnaires.
METHODS: (1) Sexual Experiences Questionnaire; (2) Multidimensional Sexuality Questionnaire; (3) Vaginal Self-Perceptions; and (4) vaginal length.
RESULTS: A sizable proportion of women reported having had sexually intimate experiences before any medical intervention on the vagina. Vaginal length, which ranged from dimple to 7 cm and averaged 2.7 cm for the cohort, was unrelated to the range of sexual experiences. Most women perceived their vagina as being too small, but less than half believed that a sexual partner would notice this. Two-thirds of the cohort subsequently completed the dilation program, which was not predicted by pretreatment vaginal length or sexual experience.
CONCLUSIONS: Contrary to the assumption that a vagina of certain dimensions is a prerequisite for women to \"have sex,\" many women with Mayer-Rokitansky-Küster-Hauser syndrome and complete androgen insensitivity syndrome reported having experienced genital and nongenital sexual activities with no medical interventions. It is recommended that treatment providers affirm women\'s capacity for sexual intimacy, relationships, and enjoyment before they introduce the topic of vaginal construction as a non-urgent choice.

Androgen insensitivity syndrome (AIS) is a congenital disorder in which a defect in the androgen receptor (AR) gene leads to cellular resistance to androgens. Defects in the AR gene, located on the X chromosome, result in the development of a feminine phenotype in chromosomally male (46, XY) individuals. In this case report, we present a 44 years old patient with complete androgen insensitivity syndrome (CAIS) initially presenting with primary amenorrhea. The patient underwent a full clinical evaluation, revealing hypoplastic vagina and a lack of uterus and ovaries. Hormonal evaluation revealed markedly elevated testosterone, FSH, and LH serum concentrations. Diagnostic imaging, including pelvic MRI, confirmed the presence of two solid masses in the inguinal canals (right 26 × 13 mm, left 25 × 15 mm). The patient underwent genetic testing, revealing a 46 XY karyotype and an as of yet unprecedented androgen receptor mutation. The type of the mutation was a single-base exchange - the substitution from cytosine to thymine in chromosome X:66942710 position (referred to human reference genome GRCh37), which has resulted in an amino acid changes from leucine (CTT) to phenyloalanine (TTT) in ligand-binding domain.

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.

Androgen insensitivity syndrome (AIS) is a very uncommon genetic disorder that results from the resistance of androgen receptor (AR) to androgen, which influences the formation of the male genitalia and in turn presents with female phenotype. Surgical resection of undesceaded testicle and different kinds of genitoplasty are crucial methods to correct the deformity of reproductive system, as well as hormone replacement therapy, which is an essential therapy for postoperational rehabilitation in AIS patients. A 43-year-old patient, who was socially female, was first admitted to gastroenterology department due to recurrent ascites and occasional abdominal pain with unknown origin. Taking physical examination, ultrasonography, karyotype analysis and sex hormone levels into consideration, the overall manifestations revealed the typical clinical features of complete androgen insensitivity syndrome. After that she was transferred to urology department for laparoscopic gonadectomy. During the surgery, doctors found that there was a vesical fistula on the upper wall near the conjunction between the bladder and ligamenta umbilicale medium, which explained the recurrent ascites for more than 4 years. After resecting the testicles and the tissues around the vesical fistula for histopathology, the result suggested Sertoli cell adenoma, hyperplastic Leydig cells and urothelium atypical hyperplasia. Hormone replacement therapy was given right after discharge. The hormone levels of follicle-stimulating hormone, luteinizing hormone, estradiol and progesterone were modulated by the dysfunction of androgen production after gonadectomy and hormone replacement therapy together with psychotherapy could stabilize her hormone levels and improve the quality of her life. The patient was suspicious of AIS family history and the pedigree was made to analyze her family which was possibly X-linked recessive pattern. We propose three possible hypotheses of the fistula, which are direct surgical injury, recurrence of bladder cancer and congenital urachal anomalies. But whether it is relevant between urachal anomalies and AIS is yet to be discovered.

Testicular feminization, or the androgen insensitivity syndrome, is a rare disease. Because of various abnormalities of the X chromosome, a male, genetically XY, has some physical characteristics of a woman or a full female phenotype. Indeed the androgen insensitivity syndrome occurs because of a resistance to the actions of the androgen hormones, which in turn switches the development towards the aspect of a woman. We report a case of complete androgen insensitivity syndrome in a 30 years old woman who presented primary amenorrhea. We aim to improve our knowledge of this illness from the data that provides us this study, and a review of the literature.