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Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis

Kim YM, Oh A, Kim KS, Yoo HW, Choi JH

PURPOSE: Patients with ovotesticular disorder of sex development (DSD) and mixed gonadal dysgenesis (MGD) usually present with asymmetric gonads and have wide phenotypic variations in internal and external genitalia. The...
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Male pseudohermaphroditism with os clitoris in three dogs

Kim K, Lee SH, Son CH, Park SI, Lee CM

Two American Cocker Spaniels and one Bichon Frise were presented to our veterinary teaching hospital with an enlarged clitoris. Diagnostic imaging showed that the structure was composed of bony material....
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Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population

Wang M, Wang H, Zhao H, Li L, Liu M, Liu F, Meng F, Fan C

BACKGROUND: 17α-hydroxylase deficiency is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene. The major clinical presentation includes hypertension, hypokalemia,...
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Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy

Heo YJ, Ko JM, Lee YA, Shin CH, Yang SW, Kim MJ, Park SS

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...
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Surveyor assay to diagnose persistent Müllerian duct syndrome in Miniature Schnauzers

Kim YJ, Kwon HJ, Byun HS, Yeom D, Choi JH, Kim JH, Shim H

Persistent Müllerian duct syndrome (PMDS) is a pseudohermaphroditism in males characterized by the presence of Müllerian duct derivatives. As PMDS dogs often lack clinical symptoms, a molecular diagnosis is essential...
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Female with 46, XY karyotype

Jung EJ, Im DH, Park YH, Byun JM, Kim YN, Jeong DH, Sung MS, Kim KT, An HJ, Jung SJ, Lee KB

Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders...
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Is Rectosigmoid Vaginoplasty Still Useful?

Kim SK, Park JW, Lim KR, Lee KC

BACKGROUND: The ideal vaginoplasty must be successful functionally as well as have a natural appearance, and also must retain its functionality and appearance over the long term. Conventional vaginoplasty techniques...
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Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature

Lee BY, Lee SY, Lee YW, Kim SY, Kim JW, Ryu HM, Lee JS, Park SY, Seo JT

PURPOSE: To identify the clinical characteristics of SRY-negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex...
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An unusual cause of urinary incontinence: Urethral coitus in a case of Mayer-Rokitansky-Kuster-Hauser syndrome

Sharifiaghdas F, Daneshpajooh A, Sohbati S, Mirzaei M

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare anomaly in women and is characterized by congenital aplasia of the uterus and vagina, with normal development of secondary sexual characteristics and a normal...
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Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR

Woo H, Ko JM, Shin CH, Yang SW

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...
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Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene

Jung JY, Yang S, Jeong EH, Lee HC, Lee YM, Han HS, Yi KH

Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male. Usually, Turner girls containing 45,X/46,XY...
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Untreated Congenital Adrenal Hyperplasia with 17-alpha Hydroxylase/17,20-Lyase Deficiency Presenting as Massive Adrenocortical Tumor

Lee SJ, Song JE, Hwang S, Lee JY, Park HS, Han S, Rhee Y

Congenital adrenal hyperplasia (CAH) with 17alpha-hydroxylase/17,20-lyase deficiency is usually characterized by hypertension and primary amenorrhea, sexual infantilism in women, and pseudohermaphroditism in men. hypertension, and sexual infantilism in women and...
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Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia

Lee SW, Kwak DS, Jung IS, Kwak JH, Park JH, Hong SM, Lee CB, Park YS, Kim DS, Choi WH, Ahn YH

Gynecomastia is a benign enlargement of the male breast caused by the proliferation of glandular breast tissue. Determining the various causes of gynecomastia such as physiological causes, drugs, systemic diseases,...
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Clinical and molecular review of atypical congenital adrenal hyperplasia

Sahakitrungruang T

Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the mutations in the genes encoding for...
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A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication

Lee GM, Ko JM, Shin CH, Yang SW

The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male syndrome, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to...
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Denys-Drash syndrome, Septated Vagina And Low Level Of Anti-mullerian Hormone In male neonate

Lee HJ, Yeom JS, Park JS, Park ES, Seo JH, Lim JY, Park CH, Woo HO, Youn HS

There is a wide variety of genital abnormalities observed in patients with Denys-Drash syndrome (DDS). WT1 is thought to influence the genes related to genital development and mutations in this...
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Male pseudohermaphroditism in a Maltese/poodle mixed dog

Jang SJ, Kim YJ, Kim G, Choi SH

  • KMID: 2168987
  • J Biomed Res.
  • 2014 Mar;15(1):36-39.
Male pseudohermaphroditism is not commonly reported in veterinary medicine. Here, a 3-year-old Maltese/poodle mixed dog presented with malformed external genitalia and episodic hematuria. Inspection and palpation of the external genitals...
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Clinical Features of Congenital Adrenal Insufficiency Including Growth Patterns and Significance of ACTH Stimulation Test

Koh JW, Kim GH, Yoo HW, Yu J

Congenital adrenal insufficiency is caused by specific genetic mutations. Early suspicion and definite diagnosis are crucial because the disease can precipitate a life-threatening hypovolemic shock without prompt treatment. This study...
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Success Rate of Microsurgical Multiple Testicular Sperm Extraction and Sperm Presence in the Ejaculate in Korean Men With Y Chromosome Microdeletions

Park SH, Lee HS, Choe JH, Lee JS, Seo JT

PURPOSE: We assessed the frequency of azoospermia factor a (AZFa), AZFb, and AZFc deletions and examined correlations between the deletion sites and the success rates of sperm presence within the...
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p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia

Park HW, Kwak BO, Kim GH, Yoo HW, Chung S

Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia which is caused by mutations in the steroidogenic acute regulatory protein (StAR). The mutations in StAR...
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