No abstract available.
Gonadal Dysgenesis, 46,XY*

Prader-Willi syndrome is a disease of chromosome 15, which is characterized by severe hypotonia and feeding difficulty in neonates, followed by development of obesity, mental retardation, and hypogonadism. Approximately 70% of the patients have a paternal deletion on chromosome 15q11-13, which is mainly a microdeletion, and a large deletion due to an unbalanced structural translocation of the proximal long arm of chromosome 15 to several other chromosomes is rarely found. We encountered a neonatal case with Prader-Willi syndrome who had sustained hypotonia and feeding difficulty. On high-resolution chromosome analysis, deletion of the short arm and the proximal part of the long arm of chromosome 15, with unbalanced translocation of the remaining part of chromosome 15(q13-qter) to the terminal part q37 of chromosome 2, was shown to be <45,XX, -15, der(2) t(2;15) (q37:q13)>. Through FISH (Fluorescence in situ hybridization) and methylation-specific DNA PCR, we confirmed the deleted q11-13 was derived from the father.
Arm ; Chromosomes, Human, Pair 15 ; Chromosomes, Human, Pair 2* ; DNA ; Fathers ; Humans ; Hypogonadism ; Infant, Newborn ; Intellectual Disability ; Muscle Hypotonia ; Obesity ; Polymerase Chain Reaction ; Prader-Willi Syndrome*

Menkes disease is a rare fatal X-linked recessive disorder characterized by a generalized defect in intracelluar copper transport. The clinical features which arise from copper deficiency include progressive neurologic deterioration, epilepsy, hair and connective tissue abnormalities. Menkes disease is caused by mutations in the gene encoding the Menkes protein(ATP7A, copper transporting P-type ATPase), which is located on the long arm 13 of the X-chromosome. ATP7A mutations are found in 60 to 70% of the patients. We have experienced a case of Menkes disease in a 6-month-old male who showed developmental delay, myoclonic seizures and kinky hair. The serum copper and ceruloplasmin levels were low and the missense mutation(c.3352G>A, resulting in p.G1118S) in exon 17 of ATP7A gene was found. During 3-year follow-up, he regressed developmentally and showed brain atrophy, multiple bladder deverticula, and bony deformities.
Arm ; Atrophy ; Brain ; Ceruloplasmin ; Congenital Abnormalities ; Connective Tissue ; Copper ; Epilepsy ; Exons ; Follow-Up Studies* ; Hair ; Humans ; Infant ; Male ; Menkes Kinky Hair Syndrome* ; Seizures ; Urinary Bladder

Clinical practice guidelines for gynecologic cancers have been developed by many organizations. Although these guidelines have much in common in terms of the practice of standard of care for uterine corpus cancer, practice guidelines that reflect the characteristics of patients and healthcare and insurance systems are needed for each country. The Korean Society of Gynecologic Oncology (KSGO) published the first edition of practice guidelines for gynecologic cancer treatment in late 2006; the second edition was released in July 2010 as an evidence-based recommendation. The Guidelines Revision Committee was established in 2015 and decided to produce the third edition of the guidelines as an advanced form based on evidence-based medicine, considering up-to-date clinical trials and abundant qualified Korean data. These guidelines cover screening, surgery, adjuvant treatment, and advanced and recurrent disease with respect to endometrial carcinoma and uterine sarcoma. The committee members and many gynecologic oncologists derived key questions from the discussion, and a number of relevant scientific literatures were reviewed in advance. Recommendations for each specific question were developed by the consensus conference, and they are summarized here, together with other details. The objective of these practice guidelines is to establish standard policies on issues in clinical areas related to the management of uterine corpus cancer based on the findings in published papers to date and the consensus of experts as a KSGO Consensus Statement.
Committee Membership ; Consensus* ; Delivery of Health Care ; Drug Therapy ; Endometrial Neoplasms ; Evidence-Based Medicine ; Female ; Humans ; Insurance ; Korea* ; Mass Screening ; Sarcoma ; Standard of Care