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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Testicular feminization syndrome, irreducible inguinal hernia, bowel obstruction, and testicular torsion were diagnosed and treated in a 13-year-old girl. Diagnosis of this case in such a complex form in an emergency room is a rare occurrence. Through this case, we want to emphasize the coincidence of inguinal hernia and testicular feminization and the X-linked recessive transmission character of the disease.
Hernia 2003 Sep
PMID:Irreducible inguinal hernia, bowel obstruction, and torsion of testis in a patient with testicular feminization syndrome. 1294 47

Mucopolysaccharidosis Type II (Hunter syndrome) is a rare X-linked recessive storage disorder caused by deficiency of lysosomal enzyme iduronate-2-sulfatase, causing excess accumulation of glycosaminoglycans in the lysosomes resulting in cellular damage, organ failure and death. Severe subtype develops characteristic clinical features and cognitive impairment early and die in second decade of life. In a resource poor setting, we report a case of Hunter syndrome, severe subtype, based on global development delay, coarse facies, short stature, hepatosplenomegaly and dysostosis multiplex on X-ray with unusual large congenital inguinal hernia. The diagnosis was important because of risk of recurrence of hernia after repair.
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PMID:Mucopolysaccharidosis type II with inguinal hernia. 2490 34

BACKGROUND Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive syndrome characterized by fetal overgrowth. CASE REPORT We present a case of a male infant with SGBS. Abnormal prenatal ultrasound (including congenital diaphragmatic hernia) prompted microarray testing of amniotic fluid cells, which showed deletion on chromosome Xq26.2 affecting the glypican-3 gene consistent with SGBS type I. The infant died six hours after birth and at autopsy showed features of SGBS, including macrosomia, organomegaly, diaphragmatic hernia with consequent pulmonary hypoplasia, cleft palate, large tongue with a midline groove, a supernumerary nipple, Meckel's diverticulum, and abnormal phalanges. Additionally, we observed features that have previously not been described in SGBS, including testes with hyperplastic seminiferous tubules and Mullerian remnants, and placenta with incipient fetal thrombotic vasculopathy. CONCLUSIONS While most patients with SGBS type I survive into childhood or even adulthood, the severe course in our patient was ascribed to pulmonary hypoplasia secondary to the bilateral diaphragmatic hernia.
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PMID:Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules. 2860 Apr 84