• Advances in pediatric surgery
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• v.12 no.1
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• pp.47-52
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• 2006

Testicular feminization syndrome (TFS) is a genetic disorder due to androgen insensitivity of the target organs. The most common clinical presentation of complete TFS is inguinal hernia in the infant or primary amenorrhea in the adolescence. A 7-year old phenotypically female patient was seen with a complaint of a right inguinal mass. Under the diagnosis of right inguinal hernia, high ligation was performed. Six months later, the patient showed a left inguinal mass. On operation, the mass looked like a testis. The external genitalia were normal female, but a uterus and ovary were not identified. Chromosome study showed a 46, XY karyotype and the levels of serum testosterone and dihydrotestosterone were increased after HCG stimulation. The patient was diagnosed as complete TFS and underwent bilateral gonadectomy 6 months later.

• Annals of Pediatric Endocrinology and Metabolism
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• v.23 no.4
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• pp.220-225
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• 2018

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a critical role in male sexual differentiation and development and preservation of the male phenotype. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male has some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, partial or mild. Here, we report 2 cases of complete AIS in young children who showed complete sex reversal from male to female as a result of AR mutations. They had palpable inguinal masses and normal female external genitalia, a blind-end vagina and absent $M{\ddot{u}}llerian$ duct derivatives. They were both 46,XY karyotype and AR gene analysis demonstrated pathologic mutations in both. Because AIS is inherited in an X-linked recessive manner, we performed genetic analysis of the female family members of each patient and found the same mutation in the mothers of both patients and in the female sibling of case 2. Gonadectomy was performed in both patients to avoid the risk of malignancy in the undescended testicles, and estrogen replacement therapy is planned for their adolescence. Individuals with complete AIS are usually raised as females and need appropriate care.

• Clinical and Experimental Reproductive Medicine
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• v.38 no.2
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• pp.115-118
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• 2011

A 58-year-old woman who presented with inguinal hernia for the first time was diagnosed as seminoma and complete androgen insensitivity syndrome (CAIS). The patient received a late diagnosis, and therefore she could not take a proper management. CAIS is a rare X-linked recessive disease with an XY karyotype that is caused by androgen receptor defects. It usually present with primary amenorrhea or inguinal hernia. The risk of malignant transformation of undescended testis increases with age, thus gonadectomy should be performed after puberty. We present a case of large advanced seminoma in a woman with CAIS who was neglected and diagnosed lately.

• Journal of Korean Neurosurgical Society
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• v.37 no.2
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• pp.137-140
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• 2005

Most vascular disorders tend to affect both the brain and heart, and among them, a clinical syndrome constituting cerebral aneurysm and aortic coarctation(AC) has been well recognized. Persistent hypertensive impact to the cerebral vasculature with developmental anomaly of the neural crest, precursor of ectomenchymal, would be closely associated with development of the cerebral aneurysm in AC. Gonadal steroid hormone, a guardian of the cardiovascular system, has been known for its protective effects on the vascular wall. Gonadal steroid hormone (androgen) insensitivity such as 46,XY female syndrome may increase the risk of hypertention and subsequent vascular anomalies. The authors report on a 46-year-old 46,XY female patient with AC who underwent surgical clipping of the ruptured cerebral aneurysm. Clinical implications and proposed pathogenetic mechanisms of aneurysm in this intersex syndrome are presented and discussed.

• Clinical and Experimental Reproductive Medicine
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• v.41 no.1
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• pp.29-32
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• 2014

Objective: To investigate the causes of amenorrhea in Korean women. Methods: Medical records from 1,212 women with amenorrhea who visited the Department of Obstetrics and Gynecology, Asan Medical Center, between January 1989 and December 2011 were retrospectively reviewed. Amenorrhea was categorized as either primary or secondary. Results: Primary amenorrhea was identified in 132 of the patients (10.9%) and secondary amenorrhea in 1,080 (89.1%). The most frequent causes of primary amenorrhea were gonadal dysgenesis (28.0%, 37/132); Mayer-Rokitansky-K$\ddot{u}$ster-Hauser syndrome (20.0%, 27/132); and constitutional delay and androgen insensitivity syndrome (8.3%, 11/132; 8.3%, 11/132, respectively). Secondary amenorrhea was due to polycystic ovary syndrome (48.4%, 523/1,080); premature ovarian insufficiency (14.0%, 151/1,080); and nutrition-related hypogonadotropic hypogonadism (8.3%, 90/1,080). Conclusion: In this retrospective study, gonadal dysgenesis was the most common cause of primary amenorrhea and polycystic ovary syndrome was the most common cause of secondary amenorrhea in Korean women.

• Archives of Plastic Surgery
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• v.37 no.6
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• pp.831-834
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• 2010

Purpose: Congenital absence of the vagina is a rare case. It occurs as a result of Mullerian duct aplasia or complete androgen insensitivity syndrome. The reconstructive modality includes skin graft, use of intestine and various methods of flap. We report a patient who underwent vulvoperineal fasciocutaneous flap to reconstruct congenital absence of the vagina, while the external genitalia and ovaries are normal. Methods: A 26-year-old woman presented with vaginal agenesis. Under general anesthesia, a U-shaped incision was made between the urethral meatus and the anus. The new vaginal pocket was created up to the level of the peritoneal reflection between the urinary structures and the rectum. Next, the vulvoperineal fasciocutaneous flaps were designed in a rectangular fashion. Flap elevation was begun at the lateral margin which the adductor longus fascia was incised and elevated, and the superficial perineal neurovascular pedicle was invested by the fascial layer. The medial border was then elevated. A subcutaneous tunnel was created beneath the inferior of the labia to rotate the flaps. The left vulvoperineal flap was rotated counterclockwise and the right was rotated clockwise. The neovaginal pouch was formed by approximating the medial and lateral borders. The tubed neovagina was then transposed into the cavity. Results: In 3 weeks, the vaginal canal remained supple After 6 weeks, the physical examination showed normalappearing labia majora and perineum with an adequate vaginal depth. A year after the operation, the patient had a 7 cm vagina of sufficient width with no evidence of contractures nor fibrous scar formation. The patient was sexually active without difficulty. Conclusion: Although many methods were described for reconstruction of vaginal absence, there is not a method yet to be approved as a perfect solution. We used the vulvoperineal fasciocutaneous flap to reconstruct a neovagina. This method had a following merits: a single-stage procedure, excellent flap reliability, the potential for normal function, minimal donor site morbidity and no need for subsequent dilatation, stents, or obturators. We thought that this operation has a good anatomic and functional results for reconstruction of the vagina.