• Clinical and Experimental Pediatrics
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• v.53 no.2
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• pp.158-162
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• 2010

Purpose : Turner syndrome (TS) is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the incidence of these disorders in patients with TS according to karyotype. Methods : We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals from Jan 1998 to Dec 2007. We evaluated these cases by prepared protocol of 4 medical problems.Results : The distribution of karyotype was 45,X (47.8%), mosaic pattern (34.4%) and structural aberration group (17.8%). Renal anomalies, cardiovascular anomalies, thyroid disorders and auditory problems are accompanied in 4.4%, 10.0 %, 11.1% and 5.6%, respectively. 45,X group had renal anomalies (7.0%), cardiovascular anomalies (18.6%), thyroid disorders (9.3%) and auditory problems (11.6%). Mosaic group had renal anomalies (3.2%), thyroid disorders (12.9%), no cardiovascular anomalies and auditory problems. Structural aberration group had cardiovascular anomalies (6.3%), thyroid disorders (12.5%) and no other 2 problems. Patients with 45,X group had a significant higher incidence of cardiovascular anomalies (P =0.025). Conclusion : Our results indicate that there are differences clinically according to karyotype of TS, especially in incidence of cardiovascular anomalies.

• Clinical and Experimental Reproductive Medicine
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• v.13 no.2
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• pp.153-159
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• 1986

The high rate of chromosomal abnormalities in patients with primary amenorrhea implies the need for routine screening for chromosomal abnormalities among such patients. This study was designed for the cytogenetic analysis of 236 patients with primary amenorrhea, which was referred to Yonsei University Medical Center, from January, 1, 1974 to December, 31, 1985. The results were as follows: 1. Of the 236 patients, 145 cases (61.4%) showed normal karyotype, and 91 cases (38.6%) showed chromosomal abnormalities. 2. Gonadal dysgenesis was found in 56 cases, consisting of 42 cases, Turner's syndrome, 12 cases, pure gonadal dysgenesis, and 2 cases mixed gonadal dysgenesis. a) Turner's syndrome was found in 42 cases, consisting of 18 cases of 45, X and 24 cases of mosaicism. b) Pure gonadal dysgenesis was found in 12 cases, consisting of 10 cases of 46, XX and 2 cases of 46, XY. c) Mixed gonadal dysgenesis was found in 2 cases, consisting of 1 case of 46, XY and 1 case of 45, X/46, XY. 3. Intersex was found in 80 cases, consisting of 35 cases of 46, XX, and 45 cases of 46, XY. 4. Congenital anomalies of reproductive system was found in 82 cases and all cases were normal karyotype.

• Clinical and Experimental Pediatrics
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• v.45 no.3
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• pp.311-319
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• 2002

Purpose : We have performed this study to obtain reference data for the distribution of chromosomal aberrations in Korea. Methods : We analyzed 1,180 chromosomal study cases from Kwang ju Christian Hospital during the past 25 years. 756 cases suspected of characteristic chromosomal aberration syndromes and 424 cases with hermaphroditism, mild sexual abnormalities, multiple anomalies, or mental & growth retardation were included. Results : The male to female ratio of autosomal aberration syndromes was 1.2 : 1. 78.6% of autosomal aberrations were diagnosed under 1 year of age, whereas 89.8% of sex chromosomal aberrations were diagnosed over 12 years of age. Among 1,180 cases, 612 ones had chromosomal aberrations(51.9%) : 590 of 756 cases suspected of chromosomal aberration syndromes had aberrations( 78.0%), whereas 22 of 424 showing the above other features had aberrations(5.2%). Autosomal aberrations appeared in 514 cases(83.8%) and sex chromosomal aberrations appeared in 98 cases(16.2%). The most frequently observed abberation in autosomal aberrations was Down syndrome, followed by E, D, B, A and C group aberrations. The most common abberation in sex chromosomal aberrations was Turner syndrome, followed by Klinefelter syndrome and Fragile X syndrome. Conclusion : It is of vital importance that patients suspected of chromosomal aberrations undergo chromosomal analysis. Further advanced chromosomal staining and molecular genetic methods will raise the detection rate of chromosomal aberrations.

• Childhood Kidney Diseases
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• v.17 no.2
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• pp.73-78
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• 2013

Purpose: We aimed to investigate the clinical characteristics and associated diseases in children with a horseshoe kidney and compared these data between children and adults. Method: We performed a retrospective analysis of the medical records and radiological findings of 43 patients diagnosed with a horseshoe kidney in the Busan Paik Hospital. The subjects were divided into the children's group (14 cases, age <18 years) and the adult group (29 cases, age ${\geq}18$ years). Results: The study group consisted of 17 males and 26 females with a median age of 34 years. In the children's group (14 cases), 5 subjects were male and 9 were female, with a mean age of $6.7{\pm}6.2$ years. Most of the subjects were asymptomatic and were incidentally diagnosed with horseshoe kidney during their evaluation for another disease. Among the associated diseases in the children's group, Turner syndrome was the most common (5 cases), whereas ureteropelvic junction (UPJ) stricture was observed in 2 cases (14.2%). None of the children exhibited abnormal renal function during the follow-up period. In the adult group (29 cases), 12 subjects were male and 17 were female, with a mean age of 48 years. Eighteen patients were incidentally diagnosed with horseshoe kidney during their evaluation for another disease, and 11 patients had hematuria or abdominal pain due to renal stones. Among the associated diseases in the adult group, Turner syndrome was the most common (5 cases), and UPJ stricture was observed in 5 cases; the other accompanying diseases included hydronephrosis and overactive bladder. Six patients exhibited decreased renal function (serum creatinine level >1.5) during the follow-up period. Conclusion: Horseshoe kidney is usually diagnosed incidentally in both children and adults. In the present study, we noted that Turner syndrome was the most common associated disease in children. In addition, most children were asymptomatic but had a high risk of urologic complications after the transition to adulthood. Therefore, children with horseshoe kidney require continuous follow-up.

• Clinical and Experimental Reproductive Medicine
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• v.11 no.2
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• pp.17-25
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• 1984

Hypothalamic-pituitary function in patients of 6 selected groups of amenorrhea was evaluated by performing premarin test. Selected amenorrheic patients were divided into 6 groups of Turner's syndrome(5), adrenogenital syndrome(3), Sheehan's syndrome(4), moderate hyperprolactinemia(3), severe hyperprolactinemia(9) and functional oligoamenorrhea(9) the diagnoses of which were performed according to modified our own protocol for management of amenorrheic patients. As control 20 normally cycling women in mid follicular phase determined by their symptothermal charts during last 6 months designed by WHO were compared. The premarin test which is one of the tests evaluating the hypothalamic-pituitary function by the principle of negative and positive feed back effect's of estrogen was performed by injecting 20 mg of premarin in volus intravenously. The levels of serum LH before, 24, 48, 72, 96 and 120 hours after injection of premarin were measured by double antibody technique radioimmunoassay the reagents of which were supplied by WHO. The results were as follows: 1. Both negative and positive feed back effects by exogenous estrogen were well preserved even in the patients of gonadal dysgenesis although the baseline levels were much higher than normal. 2. In the patients of Sheehan's syndrome one could observe the minimal response of feed back effect in the case with minimal pituitary function. 3, Androgens in adrenogenital syndrome and prolactin in hyperprolactinemia may suppress mainly the positive feed back effect rather than the negative one. The suppressive effect can be abolished by proper treatments which can eliminate those suppressive hormones. 4. This premarin test may be beneficial for predicting the result of clomiphene in ovulation induction.

• Clinical and Experimental Reproductive Medicine
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• v.26 no.2
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• pp.275-280
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• 1999

Male sexual differentiation involves a cascade of events initiated by the presence on the Y chromosome of the of the SRY (sex determining region of Y chromosome) gene, which causes the indifferent gonad to develop into a testis. Hormonal products of the testis, predominantly testosterone and Mullerian inhibiting subtance (MIS), then control the sexual differentiation of the developing fetus. SRY is a transcription factor; however, target genes for its action have yet to be identified, because the DNA recognition sequence for SRY is found in many genes. Therefore the study of intersex disorders is being used to identify other genes active in the pathway of sexual differentiation. Patients with 46,XY gonadal dysgenesis, or Swyer's syndrome, have streak gonads, normal stature, and a sexually infantile phenotype with Mullerian structures present. The inheritance is usually sporadic but can be autosomal dominant or X-linked recessive. Unlike 45,X patients, stigmata of Turner syndrome are rare. As many as 20 to 30% of patients are at risk for malignant gonadal tumor formation and should undergo gonadectomy soon after the diagnosis is made. We have experienced a case of Swyer syndrome which showed a positive SRY gene in peripheral blood and gonad. So we report this case with a brief review of literatures.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.7 no.2
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• pp.123-126
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• 2011

Noonan syndrome (NS) is a developmental disorder characterized by dysmorphic facial features in association with short stature, mental retardation and congenital heart disease. NS may be sporadic or inherited as an autosomal dominant or recessive trait. The children with NS usually have ocular hypertelorism, downslanting palpebral fissures, low-set ears and a webbed neck, chest deformity. In addition, oral features include micrognathia, high arched palate, dental malocclusion, dental anomalies and rarely, cleft palate. The phenotype of NS bears similarities to that of Turner syndrome. However, NS occurs in both males and females with a normal sex chromosome 46, XX and 46, XY constitution. This case presents the intermittent treatment of an 8-year-old girl who was referred from a local clinic for the extraction of supernumerary teeth and treatment of dental caries. The focus of this case report is the oral aspects on NS and particularities of the dental treatment in subjects affected by this genetic disease.

• Journal of Yeungnam Medical Science
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• v.22 no.1
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• pp.1-12
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• 2005

Normal growth and development is of prime concern during childhood. The treatment of children with growth hormone deficiency has been revolutionized by growth hormone therapy. An improved height outcome with a final height within the target height range has been achieved. However, close follow-up with regular clinical and laboratory monitoring is essential for achieving the desirable height outcome. The theoretical unlimited supply of growth hormone has led to its wide spread use in a variety of disorders other than a growth hormone deficiency. Initially used in children with Turner syndrome, growth hormone is now used to treat chronic renal failure, an idiopathic short stature and intrauterine growth restrictions in addition to a wide array of newly emerging indications. This review summarizes the basics for a proper growth assessment, the differentiation of normal and abnormal growth causes of a short stature, and the indications for growth hormone treatment.

• Journal of Genetic Medicine
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• v.17 no.2
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• pp.108-111
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• 2020

Short stature homeobox-containing gene (SHOX) is a well-known causative gene for the short stature in Turner syndrome. The clinical manifestation of SHOX gene related disorders varies from SHOX haploinsufficiency, presenting with idiopathic short stature, disproportionate short stature, or Leri-Weill dyschondrosteosis (LWD) to recessive form of extreme dwarfism and limb deformity in Langer mesomelic dysplasia. LWD is usually diagnosed upon suspicion based on short stature and skeletal abnormalities, and it is rarely accompanied with respiratory failure in the neonatal period. Here, we report the case of a newborn infant with LWD presenting with severe micrognathia that caused respiratory distress, which was diagnosed using microarray testing. Even when the manifestation of Madelung deformity is not yet apparent, LWD should be considered as one of underlying diseases related to congenital micrognathia.

• Journal of Genetic Medicine
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• v.5 no.1
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• pp.61-64
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• 2008

A 24-year-old female with primary amenorrhea was referred for a chromosome study. The karyotype of the patient was 46,X,der(X) under initial GTG-banding analysis. Fluorescence in situ hybridization (FISH) analysis with an LSI Kallmann (KAL) region probe [probes for Xp22.3(KAL) and CEP(X) for control] was carried out. The abnormal chromosome was KAL- and CEP(X)${\times}2$. In addition, interphase FISH analysis revealed the patient to be mosaic for two different cell lines: 90% of cells had three signals and 10% of the cells had only one signal for CEP(X). Based on these results, the karyotype of the patient was 45,X/46,X,psu idic(X)(p22.1), which is partial trisomy for Xqter${\rightarrow}$Xp22.1 and partial monosomy for Xpter${\rightarrow}$Xp22.1. This karyotype was considered a variant of Turner syndrome. In summary, Idic(X) and low-level mosaicism was successfully characterized by FISH analysis with a CEP(X) probe.