Gender Incongruity in a Person with 46,XY and Complete Androgen Insensitivity Syndrome Raised as a Female.

We present the case of a patient with female sex assignment at birth whose parents consulted with a pediatrician when the child was 12 years old, indicating that despite female sex assignment, she felt that she (henceforth "he") had a male gender identity and was gynephilic. Medical examination revealed a 46XY karyotype, a primary amenorrhea and an appropriate testosterone increase after HCG stimulation test. The patient was diagnosed then with a 46,XY disorder of sex development with androgen insensitivity syndrome, but then he missed subsequent appointments. At the age of 24, he resumed medical follow-up to reaffirm his male gender identity through sex reassignment surgery. His physical examination showed a Tanner stage III-IV breast development, vulva, clitoris, normal-sized vagina, absence of uterus and ovaries on transvaginal ultrasound, bilateral cryptorchidism on abdominal-pelvic MRI and osteoporosis on bone densitometry. The results of the blood tests were LH 24.5 mIU/mL [normal range, 1.7-8.6 mIU/mL for men] and testosterone 8.8 nmol/L [8.7-33 nmol/L]; conversely, FSH, estradiol, progesterone, and prolactin levels were normal. The molecular genetic analysis revealed an androgen receptor gene mutation associated with complete androgen insensitivity syndrome. At present, the patient has undergone bilateral orchiectomy and has initiated treatment with topical testosterone and bisphosphonates. We have yet to evaluate the effects and decide the best therapy taking into account that he has a male gender identity but complete androgen insensitivity syndrome.

A Silent Corticotroph Pituitary Carcinoma: Lessons From an Exceptional Case Report.

Nowadays, neither imaging nor pathology evaluation can accurately predict the aggressiveness or treatment resistance of pituitary tumors at diagnosis. However, histological examination can provide useful information that might alert clinicians about the nature of pituitary tumors. Here, we describe our experience with a silent corticothoph tumor with unusual pathology, aggressive local invasion and metastatic dissemination during follow-up. We present a 61-year-old man with third cranial nerve palsy at presentation due to invasive pituitary tumor. Subtotal surgical approach was performed with a diagnosis of silent corticotroph tumor but with unusual histological features (nuclear atypia, frequent multinucleation and mitotic figures, and Ki-67 labeling index up to 70%). After a rapid regrowth, a second surgical intervention achieved successful debulking. Temozolomide treatment followed by stereotactic fractionated radiotherapy associated with temozolomide successfully managed the primary tumor. However, sacral metastasis showed up 6 months after radiotherapy treatment. Due to aggressive distant behavior, a carboplatine-etoposide scheme was decided but the patient died of urinary sepsis 31 months after the first symptoms. Our case report shows how the presentation of a pituitary tumor with aggressive features should raise a suspicion of malignancy and the need of follow up by multidisciplinary team with experience in its management. Metastases may occur even if the primary tumor is well controlled.

Resection of upper lip adenoid cystic carcinoma and reconstruction with reverse Yu flap: Report of three cases and a literature review.

The present study aimed to describe the techniques that were used, and the results obtained, with the reverse Yu flap to reconstruct medium-sized upper lip defects following resection for adenoid cystic carcinoma (ACC). Data concerning the clinical and pathological characteristics of tumours, the size and location of the defects, surgical resection and the reconstructive procedure used were evaluated in three patients, as well as postoperative complications and outcomes. In all cases, a complete surgical removal of ACC was achieved with clear margins of at least 1 cm. Histopathological features revealed two cases with a predominant solid growth pattern, and one case of cribriform. Following tumour excision, the average size of the upper lip defect was 35.7×30 mm. The reverse Yu flap was raised simultaneously with tumour resection in all cases. No flap failed, and both excellent aesthetic and functional results were obtained. All the patients had a satisfactory oral competence, without microstomia, after a median of 20 months follow-up (range, 12-30 months). Adjuvant radiation therapy was not necessary in any case. On the basis of the present case study and literature review, reverse Yu flap is revealed to be a simple and reliable technique for the reconstruction of defects ranging from one-third to two-thirds of the total upper lip length, involving the commissure, nasolabial fold and philtrum, with minimal donor morbidity and a good functional and aesthetic outcome. This flap appears to be a valid surgical option for reconstruction of medium-sized upper lip defects, which may be considered following radical excision of ACC.