Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Surgeons and clinicians should be aware of testicular feminization and its implications in performing inguinal hernia repairs on female patients of any age. Removal of the gonads is probably indicated only after pubertal growth is complete. Other intersex conditions usually require prepubertal gonadectomy, but in these patients diagnosis is often made before any planned hernia repair. Incisional biopsy of abnormal gonads is important, but the diagnosis of testicular feminization must be confirmed by appropriate laboratory tests. Corticosteroids should be given to cover the immediate postoperative period so that patients with biochemical defects will not have hypoadrenalism.
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PMID:Female inguinal hernias and testicular feminization. 724 68

Aberrant adrenal tissue is rare, particularly in adults. To the best of our knowledge, only eight cases have been reported in the English literature. Awareness of the possible occurrence of adrenal tissue in hernial sac is crucial, as these rests may have several clinical implications. These potential implications include hyperplasia, adrenal insufficiency, neoplastic transformation and misdiagnosis as metastatic clear cell carcinoma. We report a rare case of aberrant adrenocortical tissue in hernial sac. We review the literature and highlight the clinical implications of this incidental finding.
Hernia 2009 Dec
PMID:Aberrant adrenocortical tissue in hernia sac occurring in an adult: case report and review of the literature. 1936 42

Newborns with congenital diaphragmatic hernia frequently have catecholamine-unresponsive systemic hypotension and respiratory failure. We found that adrenal insufficiency frequently complicates the clinical course of infants with congenital diaphragmatic hernia and was associated with increased severity of illness.
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PMID:Adrenal insufficiency in newborns with congenital diaphragmatic hernia. 2065 37

A 24-year-old woman was admitted with general weakness, umbilical swelling, developmental delay, speech disorder, constipation, gait problem. Her findings were umbilical hernia, xerosis, dry hair, and short stature. After thyroxine treatment, she also had headache, vomiting, and palpitation, lack of appetite, and sleep disturbance. Pituitary magnetic resonance imaging revealed a heterogeneous mass at the central part of the gland on coronal section and it was interpreted as pituitary apoplexy. In the current case, the patient with congenital hypothyroidism (CH) developed pituitary apoplexy (PA) after thyroxine therapy. Therefore, it is suggested that the complaints were related to PA rather than adrenal insufficiency. Here we describe a case report evaluating PA in a patient with thyrotrophic pituitary adenoma due to CH. To the best of our knowledge, this is the first case in terms of PA associated with CH after thyroxine therapy in the literature.
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PMID:Pituitary apoplexy due to thyroxine therapy in a patient with congenital hypothyroidism. 2444 36

BACKGROUND Adrenal insufficiency is mainly due to insufficient adrenal corticosteroid hormones secretion by the adrenal cortex, which leads to clinical manifestations such as weakness, weight loss, hyperpigmentation, hypotension, and vomiting. However, the clinical manifestations of adrenocortical insufficiency may be atypical: anorexia, ascites, impaired liver function, and alacrima have been reported. Jaundice and anorexia presenting together in the same patient as the main symptoms are rare. CASE REPORT We present a rare case of a 65-year-old woman diagnosed as having adrenocortical insufficiency with chief complaints of anorexia and jaundice. The patient had a history of hiatus hernia and gastroesophageal reflux disease, which can easily lead to a misdiagnosis in clinical practice, which is what happened with this patient at the beginning in our hospital and in the other hospitals that treated her previously. Hiatus hernia was considered the mostly likely cause of her vomiting, and a laparotomy was done to repair the hernia at the local hospital. However, there was no improvement. After regular glucocorticoid replacement, the patient's symptoms all soon disappeared. CONCLUSIONS Adrenal insufficiency can atypically present as anorexia and jaundice. In order to avoid misdiagnosis, physicians should pay attention to these atypical symptoms.
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PMID:Atypical Presentation of Adrenocortical Insufficiency with Anorexia and Jaundice. 2991 Apr 58

Congenital diaphragmatic hernia (CDH) in neonates may occur as an isolated finding, in association with other anomalies, or as part of a genetic syndrome. We report the first case of an infant with CDH who presented with hyponatremic seizures due to adrenal hypoplasia congenita (AHC). The patient underwent repair of CDH defect. After an uncomplicated postoperative course while on discharge planning, he developed a seizure episode associated with severe hyponatremia and hyperkalemia. Extensive diagnostic workup revealed an NR0B1 gene variant confirming the diagnosis of X-linked AHC. The patient was eventually discharged home on hydrocortisone, fludrocortisone, and salt supplements. There are a few case reports of adrenal insufficiency in neonates with CDH, manifesting with symptoms before and immediately after reparative surgery. Clinical presentation of our patient was unique in manifesting as neonatal seizure secondary to severe hyponatremia after a stable postoperative phase. The patient's electrolytes and hemodynamic status remained stable before, during, and after surgery for CDH. This case underlines the importance of taking detailed family history and continued vigilance for signs and symptoms of adrenal insufficiency in infants with repaired CDH by pediatricians and intensivists.
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PMID:Hyponatremic Seizures and Adrenal Hypoplasia Congenita in a Neonate with Congenital Diaphragmatic Hernia. 3126 16

GATA6 pathogenic variants primarily manifest a phenotype with pancreatic agenesis and cardiac malformations. However, additional congenital malformations affecting the biliary system, congenital diaphragmatic hernia and developmental delay have been reported. We report a newborn, prenatally diagnosed with truncus arteriosus and intrauterine growth restriction, who was postnatally found to have pancreatic agenesis associated with neonatal diabetes and hepatobiliary abnormalities. Whole exome sequencing identified a de novo, heterozygous mutation in the GATA6 gene (c.1366C>T; p.Arg456Cys). Further investigations revealed abnormalities not previously associated with GATA6 mutation, including unilateral thyroid lobe agenesis associated with congenital hypothyroidism, absent gall bladder, possible adrenal insufficiency, thrombocytopenia, and neonatal stroke.
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PMID:Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation. 3220 56