• Journal of Genetic Medicine
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• 제18권2호
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• pp.147-151
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• 2021

The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) (Online Mendelian Inheritance in Man #603736) is a rare autosomal dominant disorder and clinically features blepharophimosis with ptosis, a mask-like facial appearance, cryptorchidism, congenital heart defect, long thumbs/great toes, and thyroid dysfunction. The etiology of SBBYSS has been shown to be due to heterozygous KAT6B gene mutation. Here we report a case of a neonate with SBBYSS identified a novel mutation in KAT6B gene. The patient showed typical dysmorphic facies, cryptorchidism with micropenis, overriding fingers, and long thumbs and toes at birth. He had also hypothyroidism, large atrial septal defect, and sensorineural hearing loss. The next generation sequencing identified a heterozygous novel variant, c.5206C>T (p.Gln1736Ter) in KAT6B gene. At the 9 months of age, he underwent patch closure for atrial septal defect. Until the 12-month follow-up, he was under-developed.

• 한국임상수의학회지
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• 제26권2호
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• pp.185-188
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• 2009

6개월령의 보스톤 테리어가 미측 음경 돌출과 불완전 형성된 포피, 이분화된 음낭, 잠복고환과 음경골 이형성을 나타내었다. 신체검사상, 요도구멍은 회음부 표면에 위치하였고 섬유성 띠는 귀두로부터 회음부에 있는 요도구멍까지 연결되어 있었다. 또한, 잘못 위치한 요도구멍을 통한 상행성 감염에 의하여 요도염을 나타내었다. 교정수술은 외부생식기 전체와 잠복고환을 절제하기 위하여 시행되었다. 포피, 음경 그리고 잠복고환은 성공적으로 절제되었다. 수술 후 요도구멍을 주기적으로 세척하고 항생제를 투여한 이후, 재발성 요도염은 사라졌다. 만약, 요도구멍의 위치가 재발성 요도염의 원인과 요실금의 주요 원인이 아니라면, 요도구멍을 재형성할 필요가 없는 이 치료법을 이용할 것을 제안한다.

• Clinical and Experimental Pediatrics
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• 제63권11호
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• pp.415-421
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• 2020

Cryptorchidism or undescended testis is the single most common genitourinary disease in male neonates. In most cases, the testes will descend spontaneously by 3 months of age. If the testes do not descend by 6 months of age, the probability of spontaneous descent thereafter is low. About 1%-2% of boys older than 6 months have undescended testes after their early postnatal descent. In some cases, a testis vanishes in the abdomen or reascends after birth which was present in the scrotum at birth. An inguinal undescended testis is sometimes mistaken for an inguinal hernia. A surgical specialist referral is recommended if descent does not occur by 6 months, undescended testis is newly diagnosed after 6 months of age, or testicular torsion is suspected. International guidelines do not recommend ultrasonography or other diagnostic imaging because they cannot add diagnostic accuracy or change treatment. Routine hormonal therapy is not recommended for undescended testis due to a lack of evidence. Orchiopexy is recommended between 6 and 18 months at the latest to protect the fertility potential and decrease the risk of malignant changes. Patients with unilateral undescended testis have an infertility rate of up to 10%. This rate is even higher in patients with bilateral undescended testes, with intra-abdominal undescended testis, or who underwent delayed orchiopexy. Patients with undescended testis have a threefold increased risk of testicular cancer later in life compared to the general population. Self-examination after puberty is recommended to facilitate early cancer detection. A timely referral to a surgical specialist and timely surgical correction are the most important factors for decreasing infertility and testicular cancer rates.

• Journal of Chest Surgery
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• 제33권5호
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• pp.419-421
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• 2000

Noonan syndrome is characterized by typical facies, congenital heart defect, and some clinical features similar to Turner syndrome, but with normal chromosomes. The most commonly associated cardiac defects are pulmonary valvular stenosis and strial septal defect. We experienced a case of Nonan syndrome associated with pulmonay valve stenosis with double-chambered right ventricle and atrial septal defect and cryptorchidism. Pulmonary valvotomy was done through transannular incision. Hypertrophied muscle bundles were excised. Atrial septal defect was closed directly. RVOT was reconstructed with pericardial transannular patch. Orchiopexy was performed simultaneously without any problem.

• Clinical and Experimental Pediatrics
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• 제53권9호
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• pp.852-854
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• 2010

Testicular torsion is rare in newborn infants. However, its frequency has increased, most of which are reported in full-term infants. We diagnosed and treated testicular torsion in an extremely low birth weight infant (ELBWI). A $2{\times}2cm$ red mass was palpable in the left groin of a 24-week-old, 745 g, male newborn at 23 days of age. Left testicular torsion was diagnosed, and emergent orchiopexy was performed. Careful physical examination is needed in cases suspicious of testicular torsion in ELBWIs with cryptorchidism. Moreover, early diagnosis and emergent exploration are necessary to prevent complications such as the risk of anorchia.

• 대한영상의학회지
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• 제83권4호
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• pp.792-807
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• 2022

소아와 청소년에서 서혜부와 음낭 질환들은 비교적 흔하며, 영상은 이들 질환의 진단과 감별진단에 매우 유용하다. 때문에 이 질환들의 영상 소견을 알고 있는 것이 중요하다. 이 논문에서는 이 질환들을 크기가 작은 고환, 잠복고환, 남아있는 초상 돌기, 급성 고환통, 외상, 종양, 그 외로 분류하고 이 질환 들의 특징적인 소견에 대해 기술하고자 한다.

• 한국임상수의학회지
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• 제30권1호
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• pp.66-70
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• 2013

This report compared paramedian and flank approaches for the effective removal of abdominal unilateral cryptorchidism in calves. Two Korean native calves of approximately 300 kg in body weight, which had undergone the removal of a testis from the scrotum, were diagnosed as having abdominal unilateral (left) cryptorchidism by rectal palpation. One calf was administered with xylazine (0.2 mg/kg, IV) and was restrained in the dorsal recumbency position on the ground of barn for the paramedian approach, while the other calf was sedated with xylazine (0.03 mg/kg, IV) and restrained in the standing position for a flank approach. For the two calves, 2% lidocaine was administered by local infiltration, along the proposed incision line. Following incisions of the skin, muscle and peritoneum, the testis, which was located between the left kidney and inguinal canal, was grasped, exteriorized out of the abdominal cavity and detached from the gubernaculum testis. Then spermatic cord was ligated and cut. Finally, the testis was removed. An assistant was required to restraint a calf in dorsal recumbency for paramedian approach, and cryptorchidectomy was carried out with operator in a rather uncomfortable squatting posture, while restraint was rather simple and cryptorchidectomy was proceeded with operator in a standing posture where the flank approach was taken. During surgery, the gubernaculum testis was more strained during pulling the testis in the flank approach than in the paramedian approach, as the distance between incision site and the gubernaculum testis was greater in the flank approach than that in the paramedian approach. On the other hand, intra-abdominal pressure was greater in the paramedian approach than in the flank approach during surgery. The elapsed time between restraint and the end of surgery was 10 min shorter where the flank approach (35 min) was taken, than where the paramedian approach (45 min) was taken. In conclusion, this case study demonstrated that the flank approach might be more convenient than the paramedian approach for abdominal unilateral cryptorchidectomy in calves.

• 한국심리학회지ㆍ건강
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• 제16권1호
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• pp.169-187
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• 2011

본 연구의 목적은 생식기 기형의 대표적인 하위유형인 요도하열과 잠복고환 영유아와 양육자의 심리 사회적 특성을 탐색하는 것이다. 생후 6~38개월 요도하열(103명), 잠복고환(48명)을 대상으로 생식기 기형과 관련한 걱정과 사건 충격, 수치심을 탐색하였다. 이들을 정상통제군(131명) 양육자와 비교하여 영아의 기질과 양육자의 정신 건강, 양육자의 사회적 지지와 결혼 만족도, 양육 스트레스와 대처기제를 비교하였다. 결과, 요도하열군 모는 '배뇨와 신체기능'과 '출산 능력'을, 잠복고환 모는 '마취에 대한 부담'과 '출산 능력'을 가장 걱정하였다. 또 요도하열 모는 임상수준의 심리적 충격을 보고하였다. 정상군과의 비교에서, 요도하열 영아는 정상영아에 비해 부정적 정서가 높았고, 잠복고환 영아는 주의 전환성이 유의하게 낮았으며, 요도하열과 잠복고환 모는 정상군모보다 대인 예민성이 낮았다. 사회적 지지에서 세 집단 간 차이는 없었으나, 잠복고환 모는 정상군 모에 비해 원가족과의 갈등이 적다고 보고하였다. 요도하열과 잠복고환 모는 정상군 모보다 양육 스트레스 중 부모의 고통은 낮았고, 대처 전략을 많이 사용하였다. 양육 스트레스 총점이나 까다로운 자녀, 역기능적 상호작용에서는 집단 간 차이는 나타나지 않았다. 결과에 대해 임상적 함의와 연구적 함의를 논의하였다.

• 한국식품영양과학회지
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• 제28권5호
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• pp.1180-1186
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• 1999

A wide ranges of chemicals released into the environment have potential to interfere with physiological and development process by disrupting endocrine pathways. Endocrine system embraces a multitude of mechanisms of action, including effect on growth, behavior, reproduction and immune function. These environmental endocrine disruptors are present in environment and pose potential health consequences to human and wildlife. The best known form in endocrine distruptors involves substances which mimic or block the action of natural hormone in the body. Endocrine disruptor have been variously defined as exogenous agents that interfere with the synthesis, secretion, transport, metabolism, binding action or elimination of the natural hormones in the body which are responsible for the maintenance of homeostasis, reproduction developmental and/or behavior. Many compounds polluted into the environment by human activity are capable of disrupting the endocrine system of animals, including fish, wildlife, and humans. Among these chemicals are pesticides, industrial chemicals, and other anthropogenic products. It has been alleged that several adverse effects on human health are linked with exposure to chemicals which are claimed to be endocrine disrupters, that is, increased incidence of testicular, prostate and female breast cancer, time dependent reductions in sperm quality and quantity, increased incidence of cryptorchidism (undescended testicles) and hypospadias(malformation of the penis), altered physical and mental de velopment in children. This observation is currently the only example of chemically mediated endocrine disruption which has resulted in a clear effect at the population level.

• 한국임상수의학회지
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• 제38권5호
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• pp.221-224
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• 2021

A 8-year-old male Golden Retriever dog with bilateral cryptorchidism presented for evaluation of symmetric alopecia and gynecomastia. Abdominal radiography and computed tomography revealed bilateral enlargement of the testicles in the abdominal cavity. The concentrations of estradiol and testosterone in the blood were evaluated, and the results revealed a low testosterone/estradiol ratio despite a normal concentration of estradiol. For correction, cryptorchid testicles were surgically removed. Grossly, the bilateral retroperitoneal cryptorchid testicles were enlarged, firm, and spherical. On histopathologic examination, the right abdominal cryptorchid testicle was diagnosed as a Sertoli cell tumor (SCT)-Seminoma (SEM) combination. The contralateral testicle in the abdomen was diagnosed as a Sertoli cell tumor. The clinical signs of feminization were improved after surgery. To our knowledge, this is the first report of a case of simultaneous SCT on one side and SCT-SEM combination on the other side with sex hormone profiles in a dog.