1/8. Transverse testicular ectopia: preoperative diagnosis by ultrasonography.Transverse testicular ectopia (TTE) is a rare anomaly. We report the first case of TTE described in taiwan. The physical examination, ultrasonography (US), and laparoscopy revealed both testes in the left hemiscrotum, and surgical correction was performed. This case was diagnosed preoperatively by US, which can offer an easy, safe, and convenient alternative in the preoperative diagnosis of TTE. The possible mechanism for this anomaly and the literature are reviewed.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
2/8. Hereditary gingival fibromatosis with distinct dental, skeletal and developmental abnormalities.A case of a 9-year-old child with hereditary gingival fibromatosis, supernumerary tooth, chest deformities, auricular cartilage deformation, joint laxity and undescended testes is described. The exact mode of inheritance is unclear; a new mutation pattern is possible. These features resemble but differ from the previously reported Laband syndrome. The dental treatment consisted of surgical removal of the fibrous tissue and conservative restorative treatment under general anesthesia. The dental practitioner should be alert for developmental abnormalities such as supernumerary teeth and delayed tooth eruption. A comprehensive medical history and physical systemic evaluation is essential to rule out other systemic abnormalities. Genetic consultation is mandatory for future family planing.- - - - - - - - - - ranking = 0.056093267690583keywords = physical (Clic here for more details about this article) |
3/8. Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations.We describe a 4-year-old boy with an accessory right thumb, short and broad toes, cryptorchidism, micrognathia, abnormally modeled ears, and delayed speech development. The chromosome analysis of patient's peripheral blood lymphocytes by conventional GTG banding demonstrated a small deletion in the long arm of chromosome 1. Confirmation and defined localization of the deleted segment to chromosomal bands 1q25.3-q31.3 was obtained by high resolution prometaphase analysis. Molecular studies, using a set of polymorphic chromosome 1q specific microsatellite markers, localized the deletion between the markers D1S2127 and D1S1727 on the paternally inherited chromosome 1. The maximum physical distance between these markers is approximately 21 Mb. The previously described two patients with 1q25-q31 deletions both had severe clinical manifestations, just as the other 10 patients with the proposed "intermediate 1q deletion syndrome," associated with 1q25-q32 deletions. Distinct from all these patients, the clinical picture of our patient is markedly milder, i.e., without growth retardation, microcephaly, or clear mental retardation.- - - - - - - - - - ranking = 0.056093267690583keywords = physical (Clic here for more details about this article) |
4/8. Torsion of an intraabdominal testis tumor presenting as an acute abdomen.Torsion of an intraabdominal testicular tumor is a rare preoperative diagnosis. An increased diagnostic yield is dependent on an expedient and comprehensive preoperative evaluation. This consists of a detailed past surgical history, a thorough physical examination, and close inspection of the preoperative abdominal films. An illustrated case report is presented.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
5/8. A new form of X-linked mental retardation with growth retardation, deafness, and microgenitalism.The proband and two maternal uncles were similarly affected by a unique constellation of mental retardation and physical abnormalities. There were severe retardation, growth less than the third percentile, and significantly delayed bone age. They manifested deafness, a flat nasal bridge, several ocular abnormalities, and a rudimentary scrotum with cryptorchidism, and one had a small penis. The proband also had onychodystrophy of his fingers and toes. Their birth weights and lengths were less than expected. No chromosomal or biochemical abnormality was detected. Both uncles died, but the proband is healthy at 4 years. Their phenotype is distinguished from other forms of X-linked mental retardation and appears to be a new syndrome.- - - - - - - - - - ranking = 0.056093267690583keywords = physical (Clic here for more details about this article) |
6/8. seminoma of intra-abdominal testis in sixty-seven-year-old man.A sixty-seven-year-old man found to have a seminoma of an undescended intra-abdominal testis is believed to be the oldest reported patient with this presentation. This case emphasizes the importance of careful palpation of the testis as part of the routine physical examination at any age. Testicular tumor or metastases should be included in the differential diagnosis of retroperitoneal mass.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
7/8. hypogonadism as a cause of recurrent muscle injury in a high level soccer player. A case report.Hypogonadotropic hypogonadism is a well known entity in highly trained female athletes. In male sportsmen, resting testosterone levels may be lowered especially in well endurance trained athletes and during high intensity training periods, frequently in combination with excessive weight reduction. However, only few reports illustrate a clinical pathology related to this state. In this report, where we present a case of a high level soccer player with recurrent muscle injuries over several years, hypogonadism was caused by sports activity together with an impaired testicular function (cryptorchidy). Clinical findings included testicular maldevelopment, decreased libido, infertility and a high incidence of muscle strains and delayed post-exercise soreness in mainly eccentric exercised muscle groups. Laboratory findings showed abnormally lowered resting testosterone values, most prominent during training periods, and an unfavourable testosterone/cortisol ratio during recuperation after exercise. With respect to treatment of the problem, neither any form of physical therapy nor rehabilitation program could give long lasting benefit. Using tamoxifen, an anti-oestrogenic drug, which stimulates LH and FSH production, we not only observed normal physiological resting testosterone values and a restoration of the testosterone/cortisol ratio after exercise, but our patient also experienced a higher sexual drive, well being and a spectacular decrease in the muscle injury rate. Although this patient was not a highly endurance trained athlete, we assume that a chronic anabolic/catabolic hormone imbalance may be of greater clinical importance in sports activity based on eccentric and explosive muscle work.- - - - - - - - - - ranking = 0.056093267690583keywords = physical (Clic here for more details about this article) |
8/8. Persistent mullerian duct syndrome with or without transverse testicular ectopia and testis tumours.OBJECTIVE: To report three patients with persistent Mullerian duct syndrome (PMDS) associated with a unilateral testicular tumour. patients AND methods: Three adults with PMDS and an associated testicular malignancy were evaluated using physical examination, imaging, measurement of tumour markers, surgical exploration and chromosome analysis. RESULTS: The position of the uterus and fallopian tubes differed in all patients: one was in the scrotal sac, another in the abdomen and the third in the left inguinal canal. Two of the patients were cousins and their pedigree showed that they were probably in a sex-limited group. Both also had transverse testicular ectopia; fertility was documented in the younger patient. In all cases, the karyotype was proved to be 46, XY. CONCLUSION: We recommend that the diagnosis of PMDS is made radiologically and that the detection of Mullerian inhibiting factor is mandatory. As malignancy does not occur in the retained mullerian ducts, hysterectomy should not be performed at abdominal exploration, although orchidectomy should be, because orchidopexy offers only limited protection against future malignancy if performed after 2 years of age. It is not necessary to perform testicular biopsy to detect tumour in the scrotal testis in this syndrome, because an impalpable tumour can be localized by ultrasonography.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |