ACTA ENDOCRINOLOGICA (BUC)

Background. McCune-Albright syndrome (MAS) is a sporadic disease characterized by polyostotic fibrous dysplasia (FD), café au lait skin lesions and a variety of endocrine or non-endocrine dysfunctions. Case presentation. We present the case of a 33 years old woman diagnosed with MAS in 2011. She presented precocious puberty at the age of five, multiple long bone fractures, but no café-au-lait spots were identified. The thyroid investigation tests revealed a toxic multinodular goiter. The thyroid scintigraphy showed an increased uptake in the superior third of the right lobe. The X-rays and bone scintigraphy revealed polyostotic FD. The patient was previously diagnosed with transmission hypoacusia, explicable in the setting of bony auditory canal deformity. The assessment of phospho-calcium balance showed a hyperphosphaturic hypophosphatemia. The liver enzymes levels were also increased, especially GGT. Conclusion. The sporadic mosaic nature of the disease means that it is an uncommon disease with a variable expression. Each case is unique, and the approach that was appropriate in one of the cases is likely not to be the best in another.

Context and objective. Somatostatin analogues and cinacalcet have been suggested to have some role in managing hypophosphatemia. This report highlights challenges in managing surgically incurable tumor induced osteomalacia (TIO) with somatostatin analogues and cinacalcet. Patient and methods. A twenty-two year old patient with severe osteomalacia was diagnosed to have TIO due to left hemipelvis tumor (June 2013). Partial surgical removal of tumor (due to its proximity to neurovascular bundles), led to transient remission for 6 weeks. Clinical worsening in spite of maximum tolerable phosphate and calcitriol dose led to trial of octreotide. Acute improvement in phosphate following subcutaneous octreotide 100 mcg was the basis for use of long acting depot octreotide, which was associated with maximal improvement for 4 months, followed by reduced efficacy. Repeated MRI revealed an increase in residual tumor size. Reevaluation revealed very a high parathyroid hormone. Cinacalcet titrated to 90 mg/day induced hypoparathyroidism, improved hypophosphatemia but caused symptomatic hypocalcemia. Cinacalcet at lower doses (30mg/day), though well tolerated, was less effective in improving hypophosphatemia. There was a near 10-fold reduction (2406 to 246RU/ml) in C-terminal FGF-23 levels with cinacalcet. Reduction in phosphate and calcitriol requirements with cinacalcet may contribute to decreased FGF-23. There was no decrease in tumor size. Conclusion. Octreotide and cinacalcet are effective in controlling hypophosphatemia over short periods. Progressive nature of TIO leading to an increased disease severity, tachyphylaxis may explain decreased efficacy of octreotide, higher cinacalcet requirement, poor tolerability, thus limiting their role in long-term management of TIO.

Introduction. Primary hyperparathyroidism (PHPT) is a prevalent endocrine condition that presents with significant clinical symptoms. Ectopic adenomas commonly occur in the tracheo-esophageal groove, thymus, intrathyroidal, and mediastinum. While mediastinal ectopic adenomas are frequently observed, pericardial ectopic adenomas are only documented in case reports in the literature. Case report. We present a 65-year-old female patient who had persistent PHPT and underwent resternotomy and excision of a pericardial ectopic parathyroid adenoma. The typical treatment for PHPT has generally been conventional bilateral neck exploration without preoperative imaging. Conventional bilateral neck exploration has decreased in popularity because of the rise in the minimally invasive parathyroidectomy (MIP) procedure. The use of MIP is prevalent in surgical procedures, and it is crucial to have precise preoperative localization. Due to the ectopic localization of certain parathyroid adenomas, they are regarded as an important cause of the failure of primary surgery. Hence, particularly when dealing with persistent and recurrent PHPT, modern imaging techniques like 4D CT enhance the efficacy of surgical interventions. Therefore, particularly in cases of ectopic parathyroid adenomas located in the mediastinum, it is important to consider the possibility that if the adenoma cannot be found after surgery, it may be located in the pericardial region.

Anorchia is a syndrome characterized by unilateral or bilateral absence of testicular tissue.\r\nAt puberty, growth and development are normal but secondary sexual development fails to\r\noccur if anorchia is bilateral.\r\nWe present the case of a 21 year-old male with a late diagnosis of bilateral anorchia. The\r\ndiagnosis was suggested by a bilateral empty scrotum, in a patient with male phenotype and\r\npoor secondary sexual development and established by karyotype analysis, hormonal profile\r\nand surgical exploration. The lack of testosterone response to hCG stimulation is the hormonal\r\nhallmark of bilateral congenital anorchia. In the absence of any information about germinal cell\r\npresence, bilateral excision of the testicular nubbins, implantation of testicular prostheses and\r\nhormonal replacement therapy were indicated.

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. 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.

Primary Pigmented Micronodular Adrenal Disease is a rare cause of Cushing’s syndrome, typically observed in children and young adults. It is often associated with the Carney complex. A typical, subclinical, or cyclic Cushing's syndrome clinic can be seen clinically. Treatment options include bilateral-unilateral adrenalectomy or medical treatment. This case presentation aims to draw attention to a rare condition by presenting a patient diagnosed with isolated PPNAD unrelated to the Carney complex.

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.