• Clinical and Experimental Reproductive Medicine
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• v.42 no.2
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• pp.72-76
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• 2015

$17{\alpha}$-hydroxylase and 17,20-lyase are enzymes encoded by the CYP17A1 gene and are required for the synthesis of sex steroids and cortisol. In $17{\alpha}$-hydroxylase deficiency, there are low blood levels of estrogens, androgens, and cortisol, and resultant compensatory increases in adrenocorticotrophic hormone that stimulate the production of 11-deoxycorticosterone and corticosterone. In turn, the excessive levels of mineralocorticoids lead to volume expansion and hypertension. Females with $17{\alpha}$-hydroxylase deficiency are characterized by primary amenorrhea and delayed puberty, with accompanying hypertension. Affected males usually have female external genitalia, a blind vagina, and intra-abdominal testes. The treatment of this disorder is centered on glucocorticoid and sex steroid replacement. In patients with $17{\alpha}$-hydroxylase deficiency who are being raised as females, estrogen should be supplemented, while genetically female patients with a uterus should also receive progesterone supplementation. Here, we report a case of a 21-year-old female with $17{\alpha}$-hydroxylase deficiency who had received inadequate treatment for a prolonged period of time. We also include a brief review of the recent literature on this disorder.

• Child Health Nursing Research
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• v.5 no.2
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• pp.211-234
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• 1999

The purpose of this article was to get hold of adolescent's needs for sex knowledge and to reveal their understanding of sex. These results may be applied to the sex education and counselling for adolescent. The participants of study were 267 students (females, 144 ; males, 123) who were the first and second grade form 1 middle and 2 high schools. They were asked to describe 3 questions that they wanted to know or to learn about sex. Their questions about sex were total 779(girls, subtotal 456, mean 3.2, boys, subtotal 323, mean, 2.6). These questions categorized to 9 items by content analysis. The items were ‘sexual drive, behavior and tendency(229, 29.4%)’ , ‘anatomy and physiology of reproductive system(140, 18.0%)’, ‘reproduction(131, 16.8%)’, ‘concept of sex(31, 4.0%)’, ‘acquaintance between the other sexes(17, 2.2%)’, and ‘the others(9, 1.2%)’ in order of frequency. The most frequent item that the student want to know or team about sex was ‘sexual drive, behavior and tendency’ except girls of sophomore in middle school. There were several features in participants' needs for sex knowledge as respects of the understanding of sex- biological sex, gender, and sexuality. The prominent feature in knowledge need of bio logical sex was that the participants had the interests according to their biological sex. They had the negative attitude to the phenomenons (ex, menstruation and pregnancy, phimosiectomy, etc) that they experienced or would experience due to their biological sex. A part of them asked the questions based the misconceptions and used the slangs or ‘××’, ect. to name the male or female genitalia. The male students wanted to know the female genitalia. The participants' understanding of gender reflected the sexism of our society, but they didn't accept and had doubts about the dual, hierarchical structure of that. The students, especially female seemed to be powerless to the harms of the sexual violence. Girls had much interest in their appearances and complained to our sexual culture that women comforted and served men. The participants had the dual perspective that the sexuality as respects of physiologic phenomenon was considered as natural but that as related to heterosexuals was as negative. And they deemed that men's sexual drive was stronger than women's and was difficult or was not able to be inhibited. They had much interests in homosexuality but reflected the negative attitude to that in our society. Adolescent felt wonder why the expressions of sexuality of adult were permitted but theirs were not. Lastly, a part of boys substituted querying the sexuality of animals for asking that of human. Maybe it was because of the embarrassment to talk about human's sexuality directly. The teenaged participants understood that the sex had not only the biological meanings but also the sociocultural meanings. They regarded the sex as natural and wanted to know it, but they had conceptions that it was difficult and embarrass to talk about it openly and directly.

• 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.

• Investigative Magnetic Resonance Imaging
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• v.15 no.2
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• pp.146-153
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• 2011

Purpose : To describe normal anatomy and compare the differences of external genital organs and urethra on MR imaging in pre- and postmenopausal women. Materials and Methods : A total of 19 pre- and 18 postmenopausal healthy women underwent pelvis MR imaging at 1.5 T. Two radiologists retrospectively scored and compared the image quality of female external genitalia and urethra on axial T2-weighted images (T2WI) and axial fat-suppressed contrast-enhanced T1-weighted images (FSCE-T1WI) by using Wilcoxon signed ranks test. The radiologists compared the wall thickness or size of external genital organs and urethra on FSCE-T1WI between two groups by using Student t test. Results : Image quality was better with FSCE-T1WI than with T2WI in all subjects (p < 0.05). The vestibular bulb, clitoris and labium minor were more clearly visualized on FSCE-T1WI in premenopausal subjects rather than in postmenopausal subjects (p < 0.05). The urethra had a target-like appearance with three layers in premenopausal and postmenopausal subjects. Postmenopausal subjects were observed to have significantly smaller vaginal wall thickness, urethral wall thickness and vestibular bulb width than premenopausal subjects (p < 0.05). Conclusion : The anatomy and morphologic changes of female external genital organs and urethra were well discernible on FSCE-T1WI.

• Journal of Genetic Medicine
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• v.13 no.1
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• pp.31-35
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• 2016

Antley-Bixler syndrome (ABS) is a rare form of syndromic craniosynostosis with additional systemic synostosis, including radiohumeral or radioulnar synostosis. Another characteristic feature of ABS is mid-facial hypoplasia that leads to airway narrowing after birth. ABS is associated with mutations in the FGFR2 and POR genes. Patients with POR mutations present with either skeletal manifestations or congenital adrenal hyperplasia with ambiguous genitalia. We report here two cases of ABS caused by mutations in FGFR2 and POR. Although the patients had craniosynostosis and radiohumeral synostosis in common and cranioplasty was performed in both cases, the male with POR mutations showed an elevated level of $17{\alpha}$-hydroxyprogesterone during newborn screening and was diagnosed with congenital adrenal hyperplasia by adrenocorticotropic hormone stimulation. This patient has been treated with hydrocortisone and fludrocortisone. He had no ambiguous genitalia but had bilateral cryptorchidism. On the other hand, the female with the FGFR2 mutation showed severe clinical manifestations: upper airway narrowing leading to tracheostomy, kyphosis of the cervical spine, and coccyx deformity. ABS shows locus heterogeneity, and mutations in two different genes can cause similar craniofacial and skeletal phenotypes. Because the long-term outcomes and inheritance patterns of the disease differ markedly, depending on the causative mutation, early molecular genetic testing is helpful.

• Journal of Embryo Transfer
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• v.30 no.4
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• pp.335-340
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• 2015

The objective of this study was to evaluate the initial detection time and development of the fetal genital structures using ultrasound in twelve pregnant small bitches. The initial detection time of the fetal genital structures was as follows: genital tubercle at days 32.6; os penis at days 45.2; labia at days 45.7; scrotum at days 47.5. Ultrasonograms of fetal genital structure according to gestational stage were as follows: Undifferentiated stage (before day 35), the genital tubercle was observed to have a small elevation and just a hyper-echogenic structure in the midline between the umbilical cord and the tail in male and female fetus. Migration stage (between day 35~45), the genital tubercle was observed as a hyper-echogenic, bilobular, oval shaped and the genital tubercle began to migrate from the initial position toward the umbilical cord in males, and toward the tail in females. Differentiated stage (after day 46), the penis and os penis were observed to stand out in the abdominal wall and the scrotum was observed toward the perineal region in male fetuses. The labia was detected at the base of the tail in female fetuses. These results indicate that ultrasound of fetal genital structures could be useful for fetal gender determination and a completely prepartum evaluation of the canine fetus.

• Animal Systematics, Evolution and Diversity
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• v.29 no.1
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• pp.92-95
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• 2013

Two ennomine species, Amblychia angeronaria Guen$\acute{e}$e and Peratostega deletaria (Moore), are reported for the first time from Korea. Amblychia angeronaria was collected from Isl. Gageo-do, in the south west of Korea. The species is distinguished by the large wingspan, the ochreous forewing with a row of large white dots on the postmedian and a grayish apical dot, and the grayish or dark ochreous hindwing with undulating postmedial line and dark grayish subterminal line. Peratostega deleraia was collected from Isl. Jeju-do, and can be distinguished by the dark brown forewing with a blackish dentate postmedian and a light brown apical dot, and the dark brown hindwing with the light brown subtermen and angulate termen. Diagnosis and description of the species are given along with figures of the male and female genitalia.

• Korean journal of applied entomology
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• v.52 no.2
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• pp.125-127
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• 2013

Coleophora virgaureae Stainton of Coleophoridae is reported for the first time from Korea, with a description and illustrations of the adult and genitalia are presented based on a single female specimen collected from Mt. Suri, Gyeonggi-do.

• Korean journal of applied entomology
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• v.22 no.3 s.56
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• pp.213-227
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• 1983

Thirteen species distributed over 3 genera of the subfamily Lithocolletinae are reported from Korea. Of them 8 species are new to the Korean fauna. Two genera, Hyloconis and Chrysaster, are recorded from the Asian continent for the first time. Fore wings of all the species and male and female genitalia of some ones are illustrated. Besides these Korean species, one North American species, Argyromiges ostensackenella Fitcher, 1859, is newly transferred to the genus Chrysoster.

• Childhood Kidney Diseases
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• v.10 no.2
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• pp.233-237
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• 2006

The clinical features of the Mayer-Rokitansky-K$\ddot{u}$ster-Hauser(MRKH) syndrome include normal female secondary sex characteristics, normal genitalia, congenital absence of vagina, rudimentary or bipartite uterus, normal ovarian function and normal ovulation, 46, XX, karyotype, frequent association of renal, skeletal and other congenital anomalies. We experienced a case of a premature infant with MRKH syndrome who had imperforate anus and unilateral renal agenesis.