• Journal of Genetic Medicine
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• v.18 no.2
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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.

• Journal of Veterinary Clinics
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• v.26 no.2
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• pp.185-188
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• 2009

A six-month-old Boston terrier presented with an extruded penis caudally, incompletely formed preputial sheath, bifid scrotum, retained testicle and deformity of the os penis. On physical examination, the urethral orifice was located on the surface of the perineum and a fibrous band was observed running from the grans to the urethral orifice on the perineum. The dog also had urethritis that was infected by ascending bacteria entering through the contaminated urethral orifice. Corrective surgery was undertaken to excise the external genitalia and retained testicle. The prepuce, penis and retained testicles were successfully excised. After the urethral orifice was cleaned periodically and antibiotics were administrated, recurrent urethritis disappeared. Using this therapeutic regime it is not necessary to reconstruct the anomaly located urethral orifice, if the location of urethral orifice is not the cause of recurrent urethritis and urinary incontinence.

• Clinical and Experimental Pediatrics
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• v.63 no.11
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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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• v.33 no.5
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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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• v.53 no.9
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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.

• Journal of the Korean Society of Radiology
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• v.83 no.4
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• pp.792-807
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• 2022

In children and adolescents, inguinal and scrotal diseases are relatively common, and imaging is very useful for the diagnosis and differential diagnosis of these diseases. Therefore, it is important to understand the imaging findings of these diseases. In this article, we classify these diseases into small testes, cryptorchidism, patent processus vaginalis, acute scrotum pain, trauma, testicular tumors, and others and describe their characteristic findings.

• Journal of Veterinary Clinics
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• v.30 no.1
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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.

• Korean Journal of Health Psychology
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• v.16 no.1
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• pp.169-187
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• 2011

The present study explored psychosocial characteristics of infants with genital anomalies (GA) and their caregivers against normal controls. Participants were female caregivers and infants between the ages of 6to38months diagnosed with hypospadias(HS;n=103) or cryptorchidism (CR;n=49). Normalcontrols(n=131) were recruited and selected via Internet. Caregivers completed measures on parenting stress, coping style, social support, and infant temperament. Within the GAgroups, HScaregivers reported their greatest parental concerns as infant urination/bodily functioning difficulties whereas CRcaregivers reported worries related to surgical anesthesia issues. Both groups reported concern about their children's potential reproductive problems. Per caregiver report, infants with GA had lower ability to self-soothe. HS infants in particular were perceived as exhibiting greater negative emotion. Compared with controls, HS and CRcaregivers overall employed coping strategies more frequently and had lower interpersonal sensitivity and parental distress. However, HScaregivers emerged as experiencing higher stress when compared to the CRgroup. There were no differences in to tal parenting stress and social support scores between groups. Further, CRcaregivers reported lower levels of family discord than controls. Despite temperament-related differences between infants with GA and normal controls, HS and CRcaregivers reported lower parental distress and greater use of coping skills as compared to controls. Clinical implications are discussed.

• Journal of the Korean Society of Food Science and Nutrition
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• v.28 no.5
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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.

• Journal of Veterinary Clinics
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• v.38 no.5
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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.