Iulia Potorac

Centre Hospitalier Universitaire de Liège | CHU de Liège · Service d'endocrinologie

Introduction Exogenous and endogenous sex hormones, especially Progesterone agonists, may be causally linked to meningioma progression. Cessation of treatment leads to stabilization or regression of Progestin-induced meningioma. In many cases, avoiding sex hormone therapy may be possible in the context of meningioma treatment. However, hormonal tre...

The risks of meningioma associated with the use of cyproterone acetate at high doses (25 to 100 mg/day) have been known since 2007. Recently, two additional molecules have been incriminated: nomegestrol acetate and chlormadinone acetate. The higher the cumulative dose and the longer the treatment duration, the bigger the risk of meningioma (12-fold...

Infertility in couples is a common problem, with both female and male factors contributing to similar extents. Severe, congenital disorders affecting fertility are, however, rare. While folliculogenesis and spermatogenesis are generally orchestrated via different mechanisms, some genetic anomalies can impair both female and male gametogenesis. Mini...

PurposeTo study the utility of T2-weighted MRI sequences in the identification of the inferior intercavernous sinus (IICS), a potential source of bleeding during transsphenoidal surgery of pituitary adenomas.Methods Pituitary sagittal T1W and coronal T2W MRI sequences were analyzed in 237 consecutive patients, after the exclusion of postoperative M...

Context Ectopic acromegaly is a consequence of rare neuroendocrine tumors (NET) that secrete growth hormone releasing hormone (GHRH). This abnormal GHRH secretion drives growth hormone (GH) and insulin-like growth factor 1 (IGF-1) excess, with a clinical presentation similar to classical pituitary acromegaly. Identifying the underlying cause for th...

Pituitary MRI is essential in the diagnosis of ACTH‐dependent Cushing syndrome, but its results are inconsistent. The demonstration of a sellar image compatible with the diagnosis of corticotropinoma varies from 40 to 90%, depending on the center where the imaging is performed. In fact, the expertise of the neuroradiologist, the use of a Tesla 3.0...

Premature ovarian insufficiency (POI), a condition affecting up to 1% of women by the age of 40 years, is characterized by an extremely low chance of spontaneous pregnancy. Currently, fertility restoration options are virtually nonexistent for this population. To become pregnant, the only solution is egg donation. Interestingly, animal studies have...

Gigantism has always been the subject of interest among the general public due to connotations of otherworldly strength and abilities. Until quite recently, the study of gigantism as an illness has not received concerted scientific attention, probably due to its very rare nature. International collaborative research has now led to significant advan...

The polycystic ovary syndrome is one of the most frequent endocrine disorders in women of reproductive age. The first signs and symptoms of the disease may be present as early as puberty. Diagnostic criteria include hyperandrogenism (clinical or biological), ovulatory dysfunction and polycystic ovarian morphology on ultrasound. The consequences of...

Immune checkpoints inhibitors have fundamentally changed the management of oncologic patients. These treatments consist of monoclonal antibodies directed against CTLA-4 (cytotoxic T-lymphocyte antigen 4), PD-1 (programmed cell death protein-1) and PD-L1 (one of its ligands). By blocking these receptors or ligands, the antibodies reverse the immune...

Testosterone production by the fetal testis depends on a functional relationship between hCG and the LH/chorionic gonadotrophin receptor (LHCGR). Failure of the receptor to correctly respond to its ligand leads to impaired sexual differentiation in males. A phenotypically-female patient with pubertal delay, had a 46,XY karyotype and was diagnosed w...

Copy number variations (CNV), an important genetic mechanism in inherited tumor genetics, can affect large genetic regions or can be limited to smaller regions within genes, such deletions of single exons. Such exon deletions can be challenging to identify and sequencing can be normal in these cases. Multiplex ligation dependent probe amplification...

AIP mutations are rare in sporadic acromegaly but they are seen at a higher frequency among certain specific populations of pituitary adenoma patients (pituitary gigantism cases, familial isolated pituitary adenoma (FIPA) kindreds, and patients with macroadenomas who are diagnosed ≤ 30 years). AIP mutations are most prevalent in patients with pitui...

Adipsic diabetes insipidus is a rare complication of intracranial tumors in which impaired antidiuretic hormone secretion is associated with the loss of thirst sensation. Here, we present the case of a patient with bifocal intracranial germinoma, diagnosed due to symptoms mainly caused by adipsic diabetes insipidus. This is, to our knowledge, the f...

En physiologie de la reproduction, il est bien établi que les hormones glycoprotéiques hypo-physaires LH (hormone lutéinisante) et FSH régulent de concert la production de stéroïdes sexuels (indispensables à la virilisation et à la féminisation) ainsi que la gamétogenèse (spermatogenèse chez l'homme et folliculogenèse chez la femme). La sécrétion d...

In de voorplantingsfysiologie is duidelijk bewezen dat de hypofysaire glycoproteïne-hormonen LH (luteïniserend hormoon) en FSH samen de productie van geslachtssteroïden (die noodzakelijk zijn voor de virilisatie en de feminisatie) en de vorming van gameten (spermatozoa bij de man en follikels bij de vrouw) regelen. De secretie van hypofysaire gonad...

X-linked acrogigantism (XLAG) is a new, pediatric-onset genetic syndrome, due to Xq26.3 microduplications encompassing the GPR101 gene. XLAG has a remarkably distinct phenotype with disease onset occurring before the age of 5 in all cases described to date, which is significantly younger than in other forms of pituitary gigantism. These patients ha...

T2-weighted MRI signal intensity of GH-secreting pituitary adenomas is gaining recognition as a marker of disease characteristics and may be a predictor of response to treatment of acromegaly. Adenomas that are T2-hypointense are more common, are smaller and are less likely to invade the cavernous sinus compared to the T2-iso and hyperintense tumor...

Objective: Both antitumor and antisecretory efficacies of dopamine agonists (DA) make them the first-line treatment of macroprolactinomas. However, there is no guideline for MRI follow-up once prolactin is controlled. The aim of our study was to determine whether a regular MRI follow-up was necessary in patients with long-term normal prolactin lev...

Glycoprotein hormones are the most complex hormonally active macromolecules. Luteinizing hormone (LH) is essential for the postnatal development and maturation of the male gonad. Inactivating LHB gene mutations are exceptionally rare and lead to hypogonadism that is particularly severe in males. We describe a family with LH deficiency and hypogonad...

GH-secreting pituitary adenomas can be hypo-, iso- or hyper-intense on T2-weighted MRI sequences. We conducted the current multicenter study in a large population of patients with acromegaly to analyze the relationship between T2-weighted signal intensity on diagnostic MRI and hormonal and tumoral responses to somatostatin analogs (SSA) as primary...

Introduction Le traitement de 1re ligne des macroprolactinome est le plus souvent médicamenteux. Une fois la prolactine normalisée sous agonistes dopaminergiques, il n’existe pas de recommandation sur la nécessité d’un suivi IRM. L’objectif de notre étude était d’évaluer si les patients porteurs de macroprolactinome dont la prolactine était normali...

Introduction Le syndrome de Cushing reste un des diagnostics les plus difficiles en endocrinologie. Son evaluation repose sur des mesures repetees de cortisol. La maladie de Cushing est causee, dans la majorite des cas, par un micro-adenome hypophysaire. Cependant, l’evaluation par IRM ne permet pas toujours de le deceler. Cas clinique Notre patien...

Introduction Prolactinoma is a frequent cause of hypogonadisme. Dopamine agonist treatment is usually safe and efficient to restore fertility. During pregnancy, prolactinoma behavior depends on its initial size and its management can be challenging. In consequence, follow-up should be intensified in pregnant women. Observation We report here the c...

One of the most evocative clinical presentations is that of acromegaly. The facial coarsening with frontal skull bossing, enlargement of nose, lips, and tongue, mandibular prognathism, and acral enlargement are the main features that support the diagnosis. Moreover, acromegalic patients also describe paresthesias, headaches, hyperhidrosis, and mens...

Pituitary incidentalomas are a by-product of modern imaging technology. The term "incidentaloma" is neither a distinct diagnosis nor a pathological entity. Rather, it should be considered a collective designation for different entities that are discovered fortuitously and that requires a working diagnosis based on the input of the radiologist, endo...

Breast cancer is rare in male patients. Certain predisposing factors, be they genetic (e.g. BRCA2 gene mutations) or hormonal (imbalance between estrogen and androgen levels) have been implicated in male breast cancer pathophysiology. Male to female (MtF) transsexualism is a condition that generally involves cross-sex hormone therapy. Anti-androgen...

Somatic mosaicism has been implicated as a causative mechanism in a number of genetic and genomic disorders. X-linked acrogigantism (XLAG) syndrome is a recently characterized genomic form of pediatric gigantism due to aggressive pituitary tumors that is caused by submicroscopic chromosome Xq26.3 duplications that include GPR101. We studied XLAG sy...

Introduction: Intracranial germ-cell tumors (GCT) are rare, occurring in less than 4% of pediatric patients. Histologically, they are divided into several types, among which germinomatous GCTs represent over 50% of cases. Depending on their location, GCTs usually present with symptoms of intracranial hypertension for pineal lesions, whereas suprase...

Introduction L’hypercalcémie hypocalciurique familiale (HHF) représente une maladie bénigne, généralement asymptomatique, ne nécessitant pas de traitement. Nous rapportons un cas de HHF avec pancréatites aiguës récurrentes. Observation Un patient de 17 ans a été hospitalisé dans notre centre pour la prise en charge d’un épisode récurrent de pancré...

Introduction Les kystes de la poche de Rathke (KPR) sont les lésions sellaires les plus fréquemment découvertes de manière fortuite. Pourtant, des formes symptomatiques existent, manifestées par des céphalées, troubles visuels et dysfonctionnement hypophysaire. Observation Notre patient, âgé de 45 ans, s’est présenté aux urgences avec des céphalée...

Introduction Dix pour cent des hyperparathyroïdies primaires sont des formes familiales, dont 10 % sont des hyperparathyroïdies primaires isolées (familial isolated hyperparathyroidism [FIHP]). Observation Le patient, âgé de 55 ans, nous a été adressé pour la prise en charge d’une hyperparathyroïdie récidivante après parathyroïdectomie (résection...

Introduction L’hypogonadisme hypogonadotrope idiopathique (HHI) est caractérisé par un manque de développement pubertaire dû à une anomalie congénitale de sécrétion ou d’action du GnRH (Gonadotropin Releasing Hormone). Elle peut s’associer à une hypo- ou anosmie (syndrome de Kallmann) ou une olfaction normale (HHI normosmique). Observation Un pati...

Familial hypocalciuric hypercalcaemia (FHH) is a characteristically asymptomatic condition that is caused principally by calcium sensing receptor gene (CASR) mutations and less frequently by GNA11 or AP2S1 mutations. We report a case of recurrent symptomatic pancreatitis in an FHH patient. The 17-year-old patient was hospitalized with abdominal pai...

Parathyroid carcinoma is a malignant neoplasm affecting 0.5 to 5.0% of all patients suffering from primary hyperparathyroidism. This cancer continues to cause challenges for diagnosis and treatment because of its rarity, overlapping features with benign parathyroid disease, and lack of distinct characteristics. The third/second generation PTH assay...

The luteinizing hormone/chorionic gonadotropin receptor (LHCGR) is a G protein-coupled receptor (GPCR) that plays a central role in male sexual differentiation, regulation of ovarian follicular maturation, ovulation and maintenance of corpus luteum and pregnancy, as well as maintenance of testicular testosterone production. Mutations in the LHCGR g...

Context: Responses of GH-secreting adenomas to multimodal management of acromegaly varies widely between patients. Understanding the behavioral patterns of GH-secreting adenomas by identifying predictive factors of their evolution is a research priority. Objective: To clarify the relationship between adenoma T2-weighted signal on diagnostic MRI in...

Ghrelin is an important neuroendocrine peptide having as main purpose the stimulation of growth hormone (GH) secretion. It is also an important regulator of the long-term energy balance and short-term nutritional intake. Ghrelin has several other biological actions, among which the capacity to regulate gastrointestinal motility, to modulate the rep...