Anesthetic Risks Associated With Antley-Bixler Syndrome

Gençay, Işn; Vargel, İbrahim; Büyükkoçak, Ünase; Yazc, İlker; Apan, Alpaslan

doi:10.1097/scs.0b013e318267be0f

Cited by 3 publications

(1 citation statement)

References 2 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Operations for genital abnormalities were usually carried out before 2 years of age including feminizing genitoplasty such as cliteroplasty and vaginal reconstruction ( 11 , 15 , 91 ), although sometimes partial clitoral reduction and vaginoplasty were performed between 5 and 12 years of age because of opposite gender assignment ( 26 ). Anesthetic risks associated with ABS phenotype should be taken into account such as difficulties in intubation with choanal obstruction ( 92 ).…”

Section: Treatmentmentioning

confidence: 99%

Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype

Wang,

Tian

2023

Front. Endocrinol.

View full text Add to dashboard Cite

Cytochrome P450 oxidoreductase deficiency (PORD) is a rare form of congenital adrenal hyperplasia that can manifest with skeletal malformations, ambiguous genitalia, and menstrual disorders caused by cytochrome P450 oxidoreductase (POR) mutations affecting electron transfer to all microsomal cytochrome P450 and some non-P450 enzymes involved in cholesterol, sterol, and drug metabolism. With the advancement of molecular biology and medical genetics, increasing numbers of PORD cases were reported, and the clinical spectrum of PORD was extended with studies on underlying mechanisms of phenotype–genotype correlations and optimum treatment. However, diagnostic challenges and management dilemma still exists because of unawareness of the condition, the overlapping manifestations with other disorders, and no clear guidelines for treatment. Delayed diagnosis and management may result in improper sex assignment, loss of reproductive capacity because of surgical removal of ruptured ovarian macro-cysts, and life-threatening conditions such as airway obstruction and adrenal crisis. The clinical outcomes and prognosis, which are influenced by specific POR mutations, the presence of additional genetic or environmental factors, and management, include early death due to developmental malformations or adrenal crisis, bilateral oophorectomies after spontaneous rupture of ovarian macro-cysts, genital ambiguity, abnormal pubertal development, and nearly normal phenotype with successful pregnancy outcomes by assisted reproduction. Thus, timely diagnosis including prenatal diagnosis with invasive and non-invasive techniques and appropriate management is essential to improve patients’ outcomes. However, even in cases with conclusive diagnosis, comprehensive assessment is needed to avoid severe complications, such as chromosomal test to help sex assignment and evaluation of adrenal function to detect partial adrenal insufficiency. In recent years, it has been noted that proper hormone replacement therapy can lead to decrease or resolve of ovarian macro-cysts, and healthy babies can be delivered by in vitro fertilization and frozen embryo transfer following adequate control of multiple hormonal imbalances. Treatment may be complicated with adverse effects on drug metabolism caused by POR mutations. Unique challenges occur in female PORD patients such as ovarian macro-cysts prone to spontaneous rupture, masculinized genitalia without progression after birth, more frequently affected pubertal development, and impaired fertility. Thus, this review focuses only on 46, XX PORD patients to summarize the potential molecular pathogenesis, differential diagnosis of classic and non-classic PORD, and tailoring therapy to maintain health, avoid severe complications, and promote fertility.

show abstract

Section: Treatmentmentioning

confidence: 99%

Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype

Wang,

Tian

2023

Front. Endocrinol.

View full text Add to dashboard Cite

show abstract

Neuroanesthesia and Coexisting Genetic Problems

Moningi

Raju

2018

Co-Existing Diseases and Neuroanesthesia

View full text Add to dashboard Cite

Creation of elbow joint in children with humeroradial synostosis. A clinical case

Grankin,

Golyana,

Avdeychik

et al. 2023

Perm Medical Journal

View full text Add to dashboard Cite

Humeroradial synostosis is a severe rare anomaly of the upper limb, leading to the development of disability. This congenital anomaly may be a separate nosological unit, or a part of a genetic syndrome. Multi-stage surgical treatment is correct for all components of the deformity. The most difficult stage of treatment is the creation of an elbow joint. There are few studies on this problem in the literature. The article presents the results of surgical treatment of two children with humeroradial synostosis, who had the elbow joint created using two techniques. Patient A. underwent microsurgical transplantation of 2–3 metatarsophalangeal joints into the area of the elbow joint that had been absent since birth. Patient B. underwent total arthroplasty of the elbow joint with an individual implant. The unsatisfactory result of the treatment of patient A. is associated with the impossibility of early development of movements in the elbow joint due to the presence of axial pins. The stable position of the endoprosthesis in patient B. made it possible to conduct a course of early development of movements and get a good long-term result. Due to small number of patients, it is impossible to reliably assess the advantage of one of the presented methods. Improvement of the results of treatment in children with humeroradial synostosis requires further research.

show abstract

Anesthetic Risks Associated With Antley-Bixler Syndrome

Cited by 3 publications

References 2 publications

Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype

Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype

Neuroanesthesia and Coexisting Genetic Problems

Creation of elbow joint in children with humeroradial synostosis. A clinical case

Contact Info

Product

Resources

About