ACTA ENDOCRINOLOGICA (BUC)

Individuals with male phenotypes and 46 XX karyotype appear in about 1 of 20,000 births\r\nwith clinical features varying from normal male appearance to sexual ambiguity and\r\nhermaphroditism. More than 80% of these patients present a spontaneous translocation of the\r\nSRY gene from the Y to the X chromosome in the paternal germinal cells.\r\nWe present a case of a 2 years old boy diagnosed with minor hypospadias, bifid scrotum,\r\nnormal penis and palpable gonads in the scrotum. The karyotype is 46 XX and FISH analysis\r\nreveals SRY translocation on one of the X chromosomes. Ultrasound exam does not reveal any\r\nmullerian structures and a hCG test proves the testes to be functional. A short course of\r\ntreatment with hCG is recommended in order to induce the proper development of the scotal\r\nsac. The patient will need monitoring, in order to identify the development of hypergonadic\r\nhypogonadism, which characterizes such patients in later life. This case underlines the\r\nimportance of comprehensively investigating any patient with even minor genitalia anomalies.

Background. Craniopharyngiomas are benign but locally invasive tumours of the sellar region that arise from ectopic embryonic remnants of Rathke's pouch, affecting both children (adamantinomatous type -aCP) and adults (papillary type -pCP) and associated with significant morbidity. Objective. To study the clinical presentation of CRF as well as the posttreatment evolution of craniopharyngioma in children versus adults in a large mixed cohort. Material and methods. We performed a retrospective review of CRF patients evaluated in the National Institute of Endocrinology in Bucharest between 1990 and 2016. Results. A total of 107 patients (72 adults, 35 children) with a mean follow-up of 6.2 years were included. The presenting symptoms were mostly headache, visual impairment, symptoms of hypopituitarism, diabetes insipidus. Some symptoms or hormonal abnormalities were significantly more prevalent in the children group (p<0.05): nausea/ vomiting (47.8% vs 16.7%), photophobia (21.7% vs 5.6%), diabetes insipidus(28.5% vs 8.3%), GH deficiency (68.8% vs 17.1%). Impaired visual acuity (67.6%of cases) or visual fields (71.4%) were more frequent in adults compared to children (44.1%; 51.6%). The tumor dimensions were similar in both groups (3.05± 1.05 cm in children; 2.7± 1.07 cm in adults). Massive suprasellar extension reaching the third ventricle was frequently present in all cases. All cases underwent surgery but only a minority of those not cured received postoperative adjuvant radiotherapy. Frequent postoperative complications were: aggravation of the endocrine deficit (>80% of cases in both groups needed chronic replacement therapy), central diabetes insipidus (68.2% children, 34.3% of adults). Conclusions. Despite similar tumor dimensions and extension compared to adults, craniopharyngioma in children is more frequently associated with signs of intracranial pressure. The results and complications of treatment are similar in adults and children

Background. Primary hyperparathyroidism (PHPT) is caused most commonly by a solitary adenoma and less commonly by multiglandular hyperplasia of the parathyroid glands (MGD). Minimally invasive parathyroidectomy (MIP) has become a frequently used strategy, but there are limitations to current preoperative localization techniques. Results. We report the case of a patient, 63 years old, female, with clinical and biochemical features of primary hyperparathyroidism (total serum calcium: 10.1mg/dL; PTH: 171pg/mL). Neck ultrasonography (USG) revealed a mixed hypoechoic tumor along the posterior aspect of the left thyroid lobe of 1.54x0.78 cm, being difficult to say if it was intrathyroidal or not. There was only minimal residual uptake in the left thyroid lobe at 4 h on Tc99m sestamibi imaging. She underwent USG-guided fine-needle aspiration (FNA) of the suspected tumor followed by PTH measurement from the needle washing (FNA-PTH). The cytology was non-diagnostic but the level of PTH in the aspirated fluid was 10.000 pg/ mL. The patient underwent an en bloc resection of the left thyroid lobe and the tumor, which was curative, as calcium (8.9 mg/dL) and PTH (25.52 pg/mL) decreased from the first day after surgery. Histopathology of the surgical specimen revealed a left parathyroid adenoma made of chief cells and included in the thyroid capsule together with the entire left thyroid lobe. Conclusion. This case report highlights the importance of FNA-PTH in the localization of functionally parathyroid tissue in difficult cases, where a clear target exists.