ACTA ENDOCRINOLOGICA (BUC)

Background. Type 0 glycogenosis is a genetic metabolic disorder characterized by the absence of glycogen synthesis of hepatic synthase and hence of liver glycogen stores in normal amounts. It is an extremely rare condition. Case study. This case is a 5-year and 11-monthold female child with asymptomatic severe hypoglycemia in the last two years. During the admission and afterwards, an extensive panel of paraclinical and imaging investigations was carried out to diagnose and document the case, which led to the specific genetic test. The result was positive for 2 heterozygous mutations in the GYS2 gene (hepatic glycogen synthase), the p.547C> T mutation was pathogenic (class 1) and c.465del, frameshift likely pathogenic (class 2). In order to integrate the clinical picture of patients with this condition and to establish potential correlations regarding the specific aspects with the general development and the phenotype, the oro-dental status was investigated. Conclusion. The investigations showed a positive correlation with literature data in several respects: low stature, hypoglycemia with hyperketonemia but normal plasma lactate, postprandial and contradictory hyperglycemia, delayed bone development, etc. Oro-buco-maxillary aspects showed a slight delay in the dental eruption. Dietary therapy and stricter dental care and additional prophylaxis are required.

Objective. We aimed to reach a diagnosis for patients with pituitary failure (PF) with more detailed multifaceted examination, to obtain new gains in this way and to apply this experience to our future patients. Patients and Method. The study included 72 patients with pituitary failure diagnosis. Patients were divided into two groups of 32 female patients with Sheehan syndrome (SS) and 40 non-Sheehan syndrome patients (20 female and 20 male). Results. The mean age of the 32 patients with Sheehan syndrome was 56.1±11.7 years with mean disease duration 20.3±8.3 years and mean age at disease onset 34.3±7.6 years. For the 40 non-SS pituitary failure patients mean age was 46.5±16.6 years, mean disease duration was 4.7±5.1 years and mean age at disease onset was 41.8±18.2 years. The prolactin response (PRL) on the TRH test was found to be significantly lower in SS patients compared to non-SS patients(p<0.05). Both patient groups had low basal pituitary hormones, with mean PRL level in SS patients 4.9±4.0 ng/mL which was significantly low compared to non-SS patients with 36.8±84.7 ng/mL(p=0.022). Conclusion. Pituitary failure patients may present with a broad range of clinical symptoms and findings. Early diagnosis and timely replacement treatment have vital importance for SS patients.

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

Aim. The goal was to study immunostaining with Inhibin alpha, Melan- A and MNF 116 in tumors located in the adrenals (benign adrenocortical tumors and metastatic lesions in the adrenal gland) because sometimes pathology cannot distinguish between the two. Patients and Methods. We included 35 patients with benign adrenal tumors and 15 patients with adrenal metastases from nonadrenal tumors submitted to laparoscopic (n=40) or classical (n=10) surgery. In our study we have explored immunostaining with inhibin α-subunit, melan-A, MNF 116 in adrenocortical tumors and metastatic lesions in the adrenal gland in order to make the distinction between primary adrenal cortical lesions and metastatic lesions. Results. All nonsecreting adrenocortical adenomas were stained with inhibin α-subunit and melan-A, but did not stain with MNF 116. All adrenal metastases stained with MNF 116 but were negative for inhibin α-subunit and melan-A with the exception of the 2 melanomas, which stained for melan-A. Conclusion. Inhibin α-subunit and melan-A were sensitive for benign adrenocortical tumors, while MNF 116 was sensitive for metastases from extraadrenal tumors.

Background. While exogenous obesity is consistently associated with early sexual maturation in girls, the reports in boys show conflicting results with some showing a positive association and others a negative or no association at all. Aim. To assess the pattern of sexual maturation in boys with exogenous obesity. Design: Mixed longitudinal study. Subjects and methods. In the present study, 102 boys between 8 yrs (+3 months) and 16 yrs (+3 months) of age with exogenous obesity who belonged to mixed socioeconomic strata were assessed at 6 monthly intervals for development of genitalia, pubic, facial and axillary hair as per the criteria laid down by Tanner 1962 in addition to their general anthropometric assessments. The data obtained was compared with previously published normative auxological and sexual maturity related data. Results. The attainment of G2 and G3 stage of genitalia development was earlier as compared with their Indian and western peers while G3 and G4 stages were found to be relatively delayed. None of the obese boys could attain G5 stage by the age of 16yrs. The appearance of facial (11.68±1.73yr), pubic (11.7±1.79yr) and axillary hair (12.41±1.69yr) occurred earlier than their Indian and western counterparts. Conclusion. The onset of sexual maturation amongst obese boys in this study as compared to their normal counterparts was earlier even though the progression of maturation was found to be relatively delayed.

for non-functioning pituitary macroadenomas (NFMAs) is still under debate. Aim. To appreciate the best timing for postoperative high voltage radiotherapy (hRT) in different type of NFMAs (classified using immunohistochemistry (IHC)). Subjects and Methods. Of 97 patients with a remnant (>1 cm) and IHC for anterior pituitary hormones, 41 patients (groups A & B) were submitted to hRT and followed up at least 5 years. RT was performed in 20/41 patients (Group A) within the first year after surgery, 21/41 patients (Group B) afterwards while in control group C, 56 patients were followed up without hRT. The progression of postoperative remnant was defined as a change of minimum of 25% of any diameter (transversal or vertical) by serial imaging studies. Results. The IHC of NFMAs revealed the following: 38 (39%) null cell, 29 (30%) gonadotropinomas, 12 (12%) silent plurihormonal, 11 (11%) silent corticotroph and 7 (7%) silent GH/PRL adenomas. Immunoreactive adenomas have relapse rate higher than null cell adenomas (ACTH> GH/ PRL> FSH/ LH> null cell) with a significant rate for silent ACTH 6/8 (75%). The null cell adenoma relapse rate was 6/23 (26%), p<0.009 in group without hRT. The relapse rate was significantly lower in group AB with hRT than in group without RT (p=0.025), at five years. Immediate hRT (applied within in first years) improved the control of the tumour growth in 90% (18/20) cases. In the group A, 10 % (2/20) patients relapsed than 24% (5/21) patients in group B and 39% (22/56) patients, Group C. Conclusion. An optimal time for radiotherapy is within the first year after the partial surgical removal of NFMAs, particularly if a large amount of residual tumour remains. Patients with silent corticotroph adenoma require special attention.

Background. Paraganglioma develop from embryological neural crest cells from the base of the skull, mediastinum, retroperitoneum, urinary bladder and scrotum. The most common location of the retroperitoneal form is situated between the aorta and vena cava, at the level of left renal vein, or more distally, to the aortic bifurcation. The care of patients with paraganglioma is a challenge for many physicians and surgeons because of its clinical features and therapeutic implications. Case presentation. We report the case of a 22-years old female patient with symptomatic retroperitoneal paraganglioma who was successfully treated with complete surgical excision. The pathological report confirmed the presence of chromaffin tumours. Postoperative care was uneventful, the patient being discharged after 10 days. Follow-up evaluation showed no recurrence after 4 years. Conclusion. Although a very rare condition, retroperitoneal paraganglioma has to be considered in the differential diagnosis of retroperitoneal tumours. Complete surgical resection is crucial for treatment and histological assessment as these tumours are potentially curable if they are diagnosed correctly. In our experience, the best surgical approach is open surgical excision for large masses located in the interaortocaval region, with a clear operatory field and good control over the major blood vessels. Follow-up is strongly recommended.

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