Browsing by Subject "vagina reconstruction"

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    MURCS association and rectovestibular fistula: Case report of a patient treated with one-stage posterior sagittal anorectoplasty and sigmoid loop vaginoplasty
    (W.B. Saunders, 2003) Günşar C.; Genç A.; Şencan A.; Daǧlar Z.; Alparslan O.; Mir E.
    MURCS association is rare, first described by Duncan in 1979, including nonrandom association of Mullerian duct aplasia or hypoplasia (MU), renal agenesis or ectopy (R), and cervicothoracic somite dysplasia. A 5-year-old girl was admitted to the clinic with a complaint of anteriorly located anus. Physical and radiologic examination of the patient found MURCS association with anorectal malformation (ARM) of rectovestibular-type fistula. She had multiple vertebral anomalies, left renal agenesis, vaginal and uterine agenesia, with a normal female 46,XX karyotype. Posterior sagittal anorectoplasty (PSARP) and sigmoid loop vaginal reconstruction was performed as a one-stage operation for the treatment of vaginal agenesis and ARM, There were no complications in the postoperative period. This combined one-stage operation can be used easily in the treatment of some components of the MURCS association such as vaginal agenesis and ARM as an associated anomaly. Copyright 2003, Elsevier Science (USA). All rights reserved.
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    CONGENITAL ADRENAL HYPERPLASIA WITH COMPOUND HETEROZYGOUS I2 SPLICE AND P453S MUTATIONS
    (Acta Endocrinologica Foundation, 2022) Almacan B.; Ozdemir N.; Onay H.; Hekimsoy Z.
    Background. Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder caused by congenital deficiency of enzymes involved in cortisol biosynthesis from cholesterol in the adrenal cortex. In this article, we aimed to present a 29-year-old female patient with I2 splice point mutation detected in one allele and P453S mutation on the other allele of CYP21A2 gene associated with 21-hydroxylase deficiency. Her further investigation revealed that her mother had P453S mutation and her father had I2 splice mutation. Case report. A 29-year-old woman with CAH was admitted to our clinic with the request of pregnancy. Her physical examination revealed a height of 151 cm, weight 59 kg, body mass index 25.8 kg/m2. According to Tanner staging, she had Stage 3 breast development and pubic hair. Her laboratory test results were as follows: Glucose: 79 mg/dL (70-100 mg/dL), Creatinine: 0.6 (0.5-0.95 mg/ dL), Sodium: 138 mEq/L (135-145 mEq/L), Potassium: 4.4 mEq/L (3.5-5.1 mEq/L), Cortisol: 0.05 µg/dL, ACTH: <5.00 pg/mL (5-46 pg/mL), 17-OH progesterone: 7.67 ng/mL (0-3 ng/mL). Chromosome analysis revealed a 46, XX karyotype. CYP21A2 gene mutation analysis was performed for the patient whose clinical history and laboratory results were compatible with congenital adrenal hyperplasia. During the reverse dot blot analysis, I2 splice mutation in one allele and P453S mutation in the other allele were detected. Conclusion. Although the I2 splice mutation detected in our case was mostly associated with a salt-wasting form of CAH, it was thought that the other P453S mutation detected may explain the relatively good clinical course in our case. © 2022, Acta Endocrinologica Foundation. All rights reserved.