Background: Improved survival in ADA-SCID patients is revealing new aspects of the systemic disorder. Although increasing numbers of reports describe the systemic manifestations of adenosine deaminase deficiency, currently there are no studies in the literature evaluating genital development and pubertal progress in these patients.
Methods: We collected retrospective data on urogenital system and pubertal development of 86 ADA-SCID patients followed in the period 2000-2017 at the Great Ormond Street Hospital (UK) and 5 centers in Italy.
Background: The choice of the sex of rearing in patients with ovotesticular differences of sex development (OT-DSD) is difficult. The final decision should be given by the patient himself or herself, but families' opinion is not to neglect especially when the diagnosis is precocious and the patient can't give the consent to medical or surgical procedures. How should we behave if the parents refuse to raise a child with genital ambiguity?
Case Presentation: We describe and comment on our multidisciplinary approach in three patients with neonatal diagnosis of OT-DSD.
Purpose: We assessed external genitalia sensitivity and sexual function in adults with congenital adrenal hyperplasia who had undergone Passerini-Glazel feminizing genitoplasty as children, and compared them to a control group of healthy counterparts.
Materials And Methods: Inclusion criteria were congenital adrenal hyperplasia, Passerini-Glazel feminizing genitoplasty, adult age and penetrative vaginal intercourse. Thermal and vibratory sensitivity of the clitoris, vagina and labia minora were analyzed using the Genito Sensory Analyzer (Medoc Ltd.
Human type 1 diabetes (T1D) is an autoimmune disease associated with major histocompatibility complex polymorphisms, β-cell autoantibodies, and autoreactive T cells. However, there is increasing evidence that innate cells may also play critical roles in T1D. We aimed to monitor peripheral immune cells in early stages of T1D (i.
View Article and Find Full Text PDFThis case report is of a female fetus diagnosed with severe idiopathic megacystis at 21 weeks of pregnancy. Sonographic monitoring demonstrated normal amniotic fluid volume and renal structures, absence of hydronephrosis, ureteral dilation, and associated abnormalities. Conservative management was chosen with postnatal confirmation of diagnosis.
View Article and Find Full Text PDFObjectives: To describe modifications of Passerini-Glazel feminizing genitoplasty and report on long-term functional outcome.
Methods: Modifications include vaginal dissection and disconnection from the urethrovaginal sinus as the initial stage of the procedure; large dissection of the neurovascular bundle on both dorsal and lateral faces of the clitoris; plication of the skin around the reduced clitoris; and suturing the lateral edge of the proximal portion of the mucocutaneous plate with the labia majora's medial edge to a plane deeper than the subcutaneous tissue. These modifications reduce bleeding and operating time, better preserve clitoral sensitivity, form the clitoral prepuce, and create labia minora.
Purpose: We report our experience with early 1-stage Passerini-Glazel feminizing genitoplasty with special emphasis on long-term results of vaginoplasty.
Materials And Methods: A total of 66 patients with ambiguous genitalia underwent 1-stage Passerini-Glazel feminizing genitoplasty. Long-term followup included an outpatient visit at 1 year postoperatively and a genital assessment with the patient under general anesthesia performed before menarche courses in those operated on at age 6 months to 8 years, and at 2 years postoperatively for those operated on at 9 years or older.