Testicular Cancer
Dongyou Liu in Tumors and Cancers, 2017
The testicular collecting system, testicular tunics, and spermatic cord, as well as the rete testis (principally of the intratesticular location), are sometimes referred to as the paratesticular region. Testicular cancer constitutes about 1.5 percent of male neoplasms and 5 percent of urologic malignancies globally, with an annual incidence of 3-8 cases per 100,000 men in Western countries and 0.5-3 cases per 100,000 men in Africa, Asia, and South America. Risk factors for testicular cancer include a history of cryptorchidism or undescended testis, Klinefelter syndrome, a familial history of testicular cancer among first-degree relatives, Down syndrome, Li-Fraumeni syndrome, the presence of a contralateral tumor or IGCNU, subfertility or infertility, tallness, previous marijuana exposure, vasectomy, trauma, mumps, and HIV infection [3]. Diagnosis of testicular germ cell tumors involves physical examination, biochemical tests for elevated serum tumor markers, ultrasonography, CT/MRI, and histological confirmation via testicular biopsy. Treatment for seminoma and teratoma primarily involves orchiectomy with high ligation of the spermatic cord.
Gynaecomastia
Anne Stephenson, Martin Mueller, John Grabinar in 100 Cases in General Practice, 2017
This chapter, written for undergraduate medical students and post-graduate doctors in training, presents information on how to manage gynaecomastia — a case which they are likely to encounter in the future in a general practice setting. It provides details of the patients' medical history and the key findings of clinical examination, together with initial investigation results data for evaluation, and helps them develop their skills of clinical reasoning. Key questions then prompt the student to evaluate the patient, and reach a decision regarding their condition and the possible treatment plan. The case is about a 12-year-old boy who has a lump on his chest. True gynaecomastia is a persistent, usually bilateral, enlargement of breast tissue in males. In this case, a quick trawl through his records shows that he has had his measles, mumps and rubella (MMR) immunizations and has not had mumps. A simple examination of his genitalia shows normal testes and penis, excluding rarities such as Klinefelter's syndrome.
Upper limb 50. Congential radio-ulnar synostosis Loder
Benjamin Joseph, Selvadurai Nayagam, Randall T Loder, Ian Torode in Paediatric Orthopaedics, 2009
The development of the forearm occurs early in gestation when many other organ systems are developing; the event that causes the failure of differentiation in the forearm may also affect the development of other organ systems. Therefore, syndromes such as Poland syndrome, Apert syndrome, arthrogryposis, Klinefelter syndrome and many others are associated with congenital radio-ulnar synostosis. Other associated organ system anomalies may also occur.
Early communicative skills of children with Klinefelter syndrome
Published in Clinical Linguistics & Phonetics, 2018
Laura Zampini, Tiziana Burla, Gaia Silibello, Francesca Dall’Ara, Claudia Rigamonti, Faustina Lalatta, Paola Vizziello
Many studies reported the presence of language impairments in children and adolescents with Klinefelter syndrome (KS). However, the first stage of their language development has been scarcely studied. The present study aimed to describe the spontaneous communicative production of 18-month-old children with KS, in comparison with that of typically developing (TD) male peers, aiming to verify the existence of different early communicative skills in both vocal and gestural modality and to identify the presence of possible associations with their later vocabulary size. Children with KS showed a lower competence in both lexical skills and emergent syntactic abilities than TD peers. No significant differences were found in gesture production. Considering the possibility of identifying an association between early communicative skills and later vocabulary size, the vocal production of TD children appeared to be significantly related to their later lexical skills; whereas, the number of gestures produced by children with KS appeared to be related to their later lexical abilities. The early detection of language risk factors will allow early intervention and careful monitoring of these children’s communicative development.
Detecting novel mutations and combined Klinefelter syndrome in Usher syndrome cases
Published in Acta Oto-Laryngologica, 2019
Xiaohong Li, Shasha Huang, Yongyi Yuan, Yu Lu, Dejun Zhang, Xiaobin Wang, Huijun Yuan, Weiju Han, Pu Dai
Background: Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, vision loss, and occasionally vestibular dysfunction. Klinefelter syndrome (KS) is an X chromosome polyploidy characterized by one or more additional X chromosomes in males. To date, there has been no report of USH combined with KS. Objectives: This study examined the causative genes in three Chinese probands with congenital hearing loss. Material and methods: Targeted next-generation sequencing (NGS) was performed to identify mutations in three probands with hearing loss. Low-coverage whole-genome sequencing (WGS) analysis of aneuploidy was used to verify the chromosome aneuploidy. Results: Four novel MYO7A mutations were identified in two USH1 probands who were initially diagnosed with nonsyndromic hearing loss until the onset of vision loss. Another case was initially diagnosed with nonsyndromic hearing loss and USH2 and KS were discovered incidentally after the genetic analysis. Conclusions: Our findings expand the mutation spectrum of MYO7A. This is also the first report of concomitant USH and KS. Genetic testing can help with clinical management, particularly if an unrecognized syndromic disorder is identified before the onset of additional symptoms. A clinical genetic evaluation is recommended as part of the diagnostic work-up in congenital hearing loss.
ACUTE LYMPHOBLASTIC LEUKEMIA AND KLINEFELTER SYNDROME IN CHILDREN: Two Cases and Review of the Literature
Published in Pediatric Hematology and Oncology, 2004
Jan-Nicolas Machatschek, André Schrauder, Frank Helm, Martin Schrappe, Alexander Claviez
The occurrence of mediastinal germ cell tumor and breast cancer have been repeatedly reported in men with Klinefelter syndrome (KS) but this association is debated controversially for patients with hematologic malignancies. The authors describe 2 tall adolescents in whom diagnostic workup for acute lymphoblastic leukemia (ALL) revealed 47, XXY and 47, XXY/48, XXXY karyotype, respectively. Among 4195 registered male patients in the ALL-BFM study group since 1983, no further patients with ALL and KS were identified. Given the lack of epidemiological data, this retrospective analysis illustrates the association of previously described cases of hematologic malignancies with KS. In contrast to other chromosomal aberrations, the incidence of ALL does not seem to be increased in pediatric patients with KS.
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