Clinical case reports - Pituitary/Adrenal | 0056 | ECE2018 | 20th European Congress of Endocrinology

ea0056p690 | Clinical case reports - Pituitary/Adrenal | ECE2018

Abstract withdrawn....

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ea0056p691 | Clinical case reports - Pituitary/Adrenal | ECE2018

Prolonged QT intervals in a patient with empty sella and isolated ACTH deficiency.

Silva-Fernandez Julia , Gomez-Alfonso Francisco Javier , Martinez-Mateo Virgilio , Val-Zaballos Florentino Del , Torres-Arroyo Belvis , Gonzalez-Lazaro Paloma , Contreras-Pascual Cristina , Garcia-Ruiz Rafael , Agredos Alvaro Garcia-Manzanares Vazquez de , Gomez-Garcia Ines

Introduction: Adrenal crisis is a life-threatening emergency, however, the relation between adrenal crisis and life-threatening arrhythmia is not known. We describe the case of a patient with adrenal crisis and arrhythmia with prolongation of QT interval.Case report: A 56-year-old woman was admitted to our hospital because of syncope. She reported having had similar episodes in the last year. She had no previous diagnoses and was not receiving any treatm...

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ea0056p692 | Clinical case reports - Pituitary/Adrenal | ECE2018

Delayed puberty vs hipogonadotropic hypogonadism; how long to wait to treat?

Munoz-Garach Araceli , Diaz-Perdigones Cristina , Cornejo-Pareja Isabel , Mancha-Doblas Isabel , Tinahones Francisco J

We presented the case of a 21 years old patient, derived from Primary Care to evaluate low testosterone levels (total testosterone (TT) 0.44 ng/ml). His father had delayed pubety and his mother menarche was at 11 years. No other personal history of interest. He had adequate child development and vaccination. No parotiditis. He referred some morning erections. Weight 59 kg, size 171 cm and BMI 20.17 kg/m2. Testes volume (TV) of 4-5 cc, scanty pubic hair. Tanner stage...

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ea0056p693 | Clinical case reports - Pituitary/Adrenal | ECE2018

Isolated secondary adrenal insufficiency associated with primary hypothyroidism presenting with hypoglycemic coma

Zhantleyev Samat , Likhodey Nataliya

A 27-years old man admitted unconscious due to severe hypoglycemia of 18 mg/dl with right-sided hemiparesis and hypotension. There was a several months history of tiredness and weight loss. Past medical history was remarkable for traumatic brain injury after unexplained syncope, primary hypothyroidism and an episode of hypoglycemia of 2 mmol/l with total improvement after iv infusion of glucose(five months previously). There was no history of drug or alcohol intake. He was on ...

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ea0056p694 | Clinical case reports - Pituitary/Adrenal | ECE2018

Clinical case of exogenous Cushing Syndrome during injections and on topical glucocorticoids

Budul Natalia , Komerdus Irina

Background: Topical glucocorticoids (GCS) are seems to have low percent of adverse effects (AE). However, inappropriate use led to AE.Material and methods: One patient with psoriasis received topical GCS (clobetasol), one patient with coxarthrosis - steroid injections (diprospan).Cases: Woman A., 32 y.o., applied topical GCS (clobetasol) for 9 weeks for psoriasis. Area of application abdomen and elbows. Frequency of applicat...

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ea0056p695 | Clinical case reports - Pituitary/Adrenal | ECE2018

An acromegaly case; presented from pituitary apoplexia to overt acromegaly before diagnosis

Gonul Burcin , Selek Alev , Cetinarslan Berrin , Canturk Zeynep , Tarkun Ilhan

Pituitary adenomas are the most common lesions of sellar cavity. The usual symptoms are associated with endocrine dysfunctions and mass effects. In this case, a 39 year old female presented with headache for one year and progressive blurred vision, nausea, vomiting for two days. Brain magnetic resonance imaging showed a 16×9 mm hemorrhagic macroadenoma in sellar cavity concordant with apoplexia and anterior pituitary hormone deficiency. The patient underwent transshphenoi...

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ea0056p696 | Clinical case reports - Pituitary/Adrenal | ECE2018

Acute hyponatraemia complicating therapy of acute hepatic porphyria need immediate correction before become symptomatic: a case report

Tesic Dragan , Petrovic Predrag , Pesic Tatjana , Stokic Edita , Medic Milioca , Mitrovic Milena , Tomic/Naglic Dragana , Icin Tijana , Bajkin Ivana , Tomic Mirjana

Introduction: Acute hepatic porphyria is a relatively rare metabolic disorder. Its typical clinical manifeastations are abdominal symptoms and/or troubles belonging to the cerebral oedema. Clinical picture of acute abdomen is frequent and unsuccessful surgical treatment leads to the diagnosis of porphyria.Case description: Female, born in 1987, presented in emergency surgical unit as appendictis. She was operated but the problems did not disappear. After...

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ea0056p697 | Clinical case reports - Pituitary/Adrenal | ECE2018

Pasireotide a new option for acromegaly

Haydardedeoglu Filiz Eksi , Bakiner Okan , Bozkirli Emre , Bagir Gulay Simsek , Ertorer Melek Eda

Background: Acromegaly is a rare neuroendocrine disorder caused by secretion of excessive levels of growth hormone. Somatostatin receptor ligands (SRLs) are first-line medical therapies for patients in whom surgery has failed or is contraindicated. We report a case who had inadequate response to multiple therapies including surgery,radiotherapy,octreotide,lanreotide,cabergoline and pegvisomant.Case: An 44-year-old woman was admitted to our hospital with ...

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ea0056p698 | Clinical case reports - Pituitary/Adrenal | ECE2018

Diabetes insipidus as first clinical manifestation of pineal tumor

Gonzalez Cristina Lorenzo , Mesa Elena Marquez , Huerta Yolanda Zambrano , Marquez Maria Pilar Olvera , Arranz Maria Teresa Herrera , Abizanda Enrique Palacio

Introduction: Central diabetes insipidus is a disorder characterized by polyuria and polydipsia due to vasopressin deficiency caused by a lesion at the hypothalamo-hypophyseal axis. Frequently, central diabetes insipidus is wrongly considered idiopathic if not associated with other neurological signs and symptoms. Herein we present the report of a case that illustrates the difficulties in the diagnosis of this condition.Case report: A 17 year-old male wa...

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ea0056p699 | Clinical case reports - Pituitary/Adrenal | ECE2018

Acromegaly and subclinical Cushing’s disease: a rare case of a pituitary macroadenoma secreting both GH and ACTH

Teusan Teodora , Ciobotar Mihaela , Ungureanu Maria-Christina , Preda Cristina , Florescu Alexandru , Mogos Voichita , Rotariu Daniel , Leustean Letitia

Introduction: Plurihormonal pituitary adenomas are unusual tumors which typically belong to one cell lineage and have an incidence of approximately 1.3%, the most common combination being GH, PRL and glycoprotein hormone subunits. There are a few cases in the literature describing cosecretion of GH and ACTH from a pituitary adenoma, the incriminated pathogenesis being the origin from different cell lineages and the aberrant patterns of transcription factors.<p class="abste...

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ea0056p700 | Clinical case reports - Pituitary/Adrenal | ECE2018

Hypogonadism following high-voltage electrical brain injury

Pires Vitoria

Introduction: Male hypogonadotropic hypogonadism (HH) is a consequence of congenital or acquired diseases that affect the hypothalamus or the pituitary gland. In HH, secretion of gonadotropin releasing hormone (GnRH) is absent or inadequate. Diagnosis during adulthood (after normal puberty) suggests an acquired etiology. Acquired hypogonadotropic hypogonadism can be caused by drugs, infectious or infiltrative lesions, systemic diseases, radiation and TBI. Post-TBI neuroendocri...

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ea0056p701 | Clinical case reports - Pituitary/Adrenal | ECE2018

A case of hypothalamic-pituitary disease: who’s the deceiving suspect?

Van Meerhaeghe Tess , De Schepper Jean , Velkeniers Brigitte

Introduction: Diagnosis and treatment of neurosarcoidosis (NS) can be challenging. We describe an unsual presentation of an isolated NS in a 21 year old adult, initially presenting with central diabetes insipidus (DI) associated with a stalk thickening at the age of 14.Case description: A 21 year old patient was first seen at the department of endocrinology after a 9 years follow-up for panhypopituitarism. He presented at the age of 14 years at the pedia...

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ea0056p702 | Clinical case reports - Pituitary/Adrenal | ECE2018

Cyclic Cushing’s syndrome: a difficult diagnosis

Marquez-Pardo Rosa , Garcia-Garcia-Doncel Lourdes , Baena-Nieto Maria-Gloria

Introduction: Cyclic Cushings syndrome (CS) is a rare disorder characterized by repeated episodes of cortisol excess interspersed by periods of normal cortisol secretion. These phases may range from days to years. The diagnosis is a difficult challenge.Case report: We present a case of 56-year-old women with hyperglycemia, hypertension, central obesity, edema, bruising, fatigue and emotional lability for several years. Laboratory tests: glucose 141...

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ea0056p703 | Clinical case reports - Pituitary/Adrenal | ECE2018

A rare cause of central hypothyroidism: oral isotretinoin treatment

Gul Ozen Oz , Cander Soner , Calapkulu Murat , Ersoy Canan , Erturk Erdinc

Background: Isotretinoin has been used for many years to treat moderate or severe nodulocystic acne, disorders of sebaceous gland and keratinization and in the prevention of skin cancer. Certain types of retinoids may cause abnormalities in serum thyroid function tests by suppressing thyroid stimulating hormone (TSH). However, it is uncertain whether systemic isotretinoin has any effect on thyroid functions.Case: 18 years old woman has admitted to our ho...

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ea0056p704 | Clinical case reports - Pituitary/Adrenal | ECE2018

The complexity of management of persistent acromegaly from repeated surgical interventions and multiple medical therapies

Nagarajan Nilamanjari , Yahia Seifeldin , Kassim Saiful

Acromegaly prevalence is 2.813.7 cases per 100,000. Diagnosis at the early stages can be quite challenging and management is complex involving various specialties to achieve remission of the condition. September 2013, 49 year old lady presented to optometry with few months of bumping into things. She was later found to have superior bitemporal hemianopia. She later described having to change her wedding rings multiple times over the past year with increase in size of sho...

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ea0056p705 | Clinical case reports - Pituitary/Adrenal | ECE2018

A case of hypopituitarism due to acute invasive fungal rhinosinusitis

Okazaki Mizuho , Nishiyama Mitsuru , Funakoshi Shogo , Matsumura Yoshihisa , Fujimoto Shinpei , Terada Yoshio

Background: Acute invasive fungal rhinosinusitis (AIFR) is a rare but fatal infection that occurs primarily in immunocompromized individuals. It is characterized by fungal invasion into the mucosa and submucosal structures of the paranasal sinuses with extension into adjacent structures, including the paranasal soft tissues, orbit and cranial vault. We present here a case of hypopituitarism due to AIFR with intracranial lesion.Case: A 59-year-old man, wh...

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ea0056p706 | Clinical case reports - Pituitary/Adrenal | ECE2018

An unexpected cause of severe hypokalemia

Belaid Rim , Bennour Maroua , Hentati Olfa , Kandara Hajer , Kamoun Ines , Salem Leila Ben

Background: Although the most common causes of hypokalemia are diuretic use and gastrointestinal losses, elevated cortisol levels can also cause hypokalemia through its effects on the renin-angiotensin-aldosterone system.Case report: A 56-year-old woman with a history of diabetes mellitus and hypertension, presented to our emergency department with fast progressing generalized weakness, abdominal discomfort and diarrhea. Digestive tract diseases were rul...

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ea0056p707 | Clinical case reports - Pituitary/Adrenal | ECE2018

Atypical pituitary adenoma: a case of histological mimicry

Schilbach Katharina , Saeger Wolfgang , Stormann Sylvere , Schopohl Jochen

We present the case of a 67-year-old man who presented to the outpatient clinic for endocrinological evaluation after partial resection of an atypical pituitary adenoma (APA). Pathohistological assessment of two independent and experienced neuropathologists resulted in a diagnosis of APA with unusually high proliferation indices (Ki67 1020%/p53 30%) and immunoreactivity for LH, FSH and the alpha-subunit. Clinical examination as well as laboratory testing revealed no sign...

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ea0056p708 | Clinical case reports - Pituitary/Adrenal | ECE2018

Bromocriptine for management of a patient with cranipharyngioma and central hyperthermia after neurosurgery: a case report

Tudurean-Olteanu Anca-Georgiana , Hrisca Anamaria , Nechita Mirela Claudia , Rotariu Daniel , Preda Cristina , Leustean Letitia , Ungureanu Maria Christina

Introduction: Central hyperthermia is frequent in patients with brain injury and is characterized by a rapid onset with high temperatures, marked temperature fluctuations and poor response to antipyretics. It is associated with worse outcomes in the injured brain, thus it is important to aggressively manage it.Case-report: We report a case of a 9-year-old boy diagnosed with sellar and suprasellar adamantimomatous craniopharyngioma at the age of 5 when he...

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ea0056p709 | Clinical case reports - Pituitary/Adrenal | ECE2018

Successful management of Cushing’s disease in pregnancy: a case report

Batman Adnan , Ozturk Feyza Yener , Sen Esra Cil , Erol Rumeysa Selvinaz , Canat Muhammed Masum , Saygili Emre Sedar , Cakir Sezin Dogan , Basmaz Seda Eren , Yildiz Duygu , Altuntas Yuksel

Introduction: Cushings disease (CD) frequently leads to hypogonadotropic hypogonadism by hypercortisolism and hyperandrogenemia. In the literature, there are totally 96 cases of CD and pregnancy. Only four of 11 cases, operated transsphenoidally, were cured. We aimed to present a case of CD developing pregnancy in which hypercortisolism was successfully controlled by transsphenoidal surgery (TSS) in 2nd trimester.Case report: 28 years old female wa...

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ea0056p710 | Clinical case reports - Pituitary/Adrenal | ECE2018

A case of diabetes insiputus due to ectopically located neurohypophysis presented during pregnancy

Bilginer Muhammet Cuneyt , Polat Burcak , Ogmen Berna , Topaloglu Oya , Baser Husniye , Ersoy Reyhan , Cakir Bekir

Background: Gestational diabetes insipidus (DI) is a rare complication of pregnancy, usually developing in the last trimester and resolves spontaneously 46 weeks post-partum. It is mainly caused by excessive vasopressinase activity, an enzyme expressed by placental trophoblasts which metabolises arginine vasopressin (AVP). However in some cases, it can develop in a patient who had limited reserve of ADH and marginal central DI prior to pregnancy and may not reso...

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ea0056p711 | Clinical case reports - Pituitary/Adrenal | ECE2018

A case with panhypopituitarism due to aneursymal hemorrhage of internal carotid artery and coil embolisation

Deniz Muzaffer Serdar , Bolayir Basak , Sel Aydin Tuncer , Sendur Halit Nahit , Altinova Alev , Toruner Fusun , Oner Ali Yusuf , Karakoc Mehmet Ayhan , Akturk Mujde

Aneurysmal subarachnoid hemorrhage has been reported to be associated with hypopituitarism. Also, internal carotid artery coil embolisation for aneurysmal hemorrhage is a rare cause of hypopituitarism. 58-year-old female patient who admitted to Emergency Department of Gazi University Medical Faculty due to visual loss and severe headache that did not respond to analgesics accompanied by nausea-vomiting starting 45 days ago. Sixth cranial nerve paralysis and bilateral tem...

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ea0056p712 | Clinical case reports - Pituitary/Adrenal | ECE2018

Progressive optic glioma and concomitant precocious puberty: case report

Ben Lagha Jihed , Jemel Manel , Mekni Sabrine , Naceri Taghrid , Kamoun Ines , Ben Salem Leila

Low-grade gliomas are the most common brain tumor in children, accounting for 3050% of central nervous system tumors in the pediatric age group. They can occur anywhere within the central nervous system (CNS) including the optic pathway (5%). When optic gliomas involve the hypothalamus, patients will often present endocrinopathy. Signs of such involvement can include growth failure and precocious puberty. In this report, we present the case of 8 years three months girls ...

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ea0056p713 | Clinical case reports - Pituitary/Adrenal | ECE2018

A singular case of hypohidrotic ectodermal dysplasia associated with acromegaly

Bel Hadj Hassen Hana , Jemel Manel , Mekni Sabrine , Ben Lagha Jihed , Kamoun Ines , Salem Leila Ben

Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder characterized by the faulty development of the ectodermal structure, resulting in most notably anhydrosis/hypohydrosis, hypotrichosis and hypodontia. Affected individuals tend to have sparse scalp and body hair (Hypohidrotic), absent teeth (hypodontia) or small and pointed teeth. HED is associated with distinctive facial features including a proeminent forehead, thick lips, and flattened bridge of the nose. The...

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ea0056p714 | Clinical case reports - Pituitary/Adrenal | ECE2018

Sever hyponatraemia and SIADH secondary Bartezomib: case report

Omer Tahir , Dhami Amardass , Kumar Rajeev

Introduction: The Syndrome of Inappropriate Antidiuretic Hormone (SIADH) is considered to be the most common cause of euvolemic hyponatremia. The most common malignancy associated with SIADH is small cell lung cancer with multiple myeloma only observed in few cases worldwide of SIADH. The first line of treatment used in multiple myeloma chemotherapy currently is a proteasome inhibitor, Bortezomib, which is considered significantly more tolerable compared with traditional chemo...

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ea0056p715 | Clinical case reports - Pituitary/Adrenal | ECE2018

Hypopituitarism due to cerebral abscess

Pappa Dimitra , Thoda Pinelopi , Sakali Anastasia-Konstantina , Georgiou Eleni , Gountios Ioannis , Bargiota Alexandra

Introduction: Infectious diseases of the central nervous system (CNS) have been associated with hypopituitarism which relates to the severity, the localization and the cause of the infection. We present here a case of a CNS abscess and hormone deficiencies. A 53 years old man referred to the emergency department of our hospital with high fever and confusion and a 3 day history of weakness and anorexia. On clinical examination he was febrile (38.4oC), disoriented in ...

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ea0056p716 | Clinical case reports - Pituitary/Adrenal | ECE2018

Low-symptomatic PRL-secreting pituitary adenoma in patient with morbid obesity

Logvinova Oksana , Troshina Ekaterina , Mazurina Natal'ya

Introduction: Obesity is one of the most common endocrine disorders. Obesity can either be a symptom of numerous diseases or be associated with them, including cases, when patient does not have other complaints besides excess weight. This should be considered before initiating obesity treatment.Case: A 42-year-old male visited endocrinologist, complaining of overweight. Minimum weight from his adulthood was 70 kg, maximum was for that moment124.5 k...

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ea0056p717 | Clinical case reports - Pituitary/Adrenal | ECE2018

Cushing’s disease, bilateral adrenal hyperplasia and ARMC5 mutation – case report

Elezovic Kovacevic Valentina , Macut Djuro , Antic Jadranka , Ognjanovic Sanja , Isailovic Tatjana , Popovic Bojana , Bozic-Antic Ivana , Bogavac Tamara , Ilic Dusan , Damjanovic Svetozar

Germline ARMC5 mutations have been described as the most frequent genetic abnormality found in patients diagnosed with primary bilateral macronodular adrenal hyperplasia (PBMAH). PBMAH is a rare etiology of Cushings syndrome. This gene has been proposed to acts as a tumor-suppressor gene. A 36-years old female presented to us with clinical signs of hypercortisolism. ACTH dependent Cushings syndrome was confirmed soon after. Pituitary magnetic resonance imaging (MRI...

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ea0056p718 | Clinical case reports - Pituitary/Adrenal | ECE2018

Post-traumatic hypopituitarism – a case report

Lazar Elena , Marin Alexandra , Dobrescu Ruxandra , Badiu Corin

Background: Head trauma of sufficient severity, particularly causing fracture to the skull base, can cause deficient secretion of anterior pituitary hormones and vasopressin. Severe hypopituitarism and diabetes insipidus (DI) are common post-traumatic events but they can recover 3 and 12 months afterwards.Objective: To report a case of a woman with post-traumatic hypopituitarism and DI after car accident.Case report: A 31 year old ...

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ea0056p719 | Clinical case reports - Pituitary/Adrenal | ECE2018

From adrenal incidentalomas to Cushing’s disease

Alves Pereira Teresa , Ferreira Lia , Furtado Ines , Lopes Ana , Fonseca Liliana , Amaral Claudia , Palma Isabel , Cardoso Helena

Introduction: Adrenal incidentalomas are asymptomatic adrenal masses found accidentally during routine examination, not intended for adrenal pathology evaluation. The functionality of these lesions must be further investigated. Rarely, bilateral adrenal nodular hyperplasia can be detected in a patient with Cushings disease. The authors present the case of a patient with possible autonomous cortisol secretion of adrenal origin that eventually emerged as Cushings dis...

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ea0056p720 | Clinical case reports - Pituitary/Adrenal | ECE2018

Somatostatin analogue use to treat visual field loss in acromegaly newly diagnosed in pregnancy

Marie Hannon Anne , Frizelle Isolda , O'Halloran Domhnall J

Acromegaly is a rare disease characterised by excessive Growth Hormone production. Subfertility is common in acromegaly and has various aetiologies, therefore pregnancy in acromegaly is rare. The limited data that is available would suggest that pregnancy in acromegaly is generally safe. However, there have been reports of tumour expansion during pregnancy. Here we present a case of first presentation of acromegaly in pregnancy and subsequent rescue of visual field loss with s...

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ea0056p721 | Clinical case reports - Pituitary/Adrenal | ECE2018

Late onset adrenocorticotrope deficiency in combined pituitary hormone deficiency caused by a mutation of the PROP1 gene

Paredes Silvia , Marques Olinda , Alves Marta

Introduction: PROP1-related combined pituitary hormone deficiency (CPHD) is associated with deficiencies of growth hormone (GH); thyroid-stimulating hormone (TSH); gonadotropins, luteinizing hormone (LH) and follicle-stimulating hormone (FSH); prolactin (PRL); and occasionally adrenocorticotropic hormone (ACTH).Clinical case: We report a clinical case of a progressive CPHD in a man presenting with first symptoms of hypocortisolism at the age of 75 years....

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ea0056p722 | Clinical case reports - Pituitary/Adrenal | ECE2018

Sever protracted hypernatraemia following Hyperosmolar hyperglycaemic state: Case report

Omer Tahir , Western Thomas , Kalk John

Introduction: Nephrogenic diabetes insipidus is caused by a deficiency in the action of anti-diuretic hormone, and can be life threatening if not treated appropriately. Lithium is a commonly used mood stabiliser in psychiatry and is known to cause NDI in around 12% of patients. It has been reported in the literature that severe hyperglycemic state may trigger symptomatic lithium-induced NDI in patients who had been on prolonged lithium therapy.Case: We r...

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ea0056p723 | Clinical case reports - Pituitary/Adrenal | ECE2018

Unusual complication of a pituitary adenoma: Pituitary abscess

Kalthoum Mehdi , Elleuch Mouna , Hadjkacem Faten , Charfi Nadia , Mnif Fatma , Abid Mohamed

Introduction: Pituitary abscesses are rare entities that can occur either as primary infections or secondarily to different causes. Primary pituitary abscess arises within a previously healthy gland, while secondary abscess occurs in pituitary gland that harbors a pre-existing lesion (adenoma, craniopharyngioma, or Rathkes cleft cyst). Only 23 cases of secondarily infected adenomas were reported in the literature.Case report: A 38-years-old man pre...

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ea0056p724 | Clinical case reports - Pituitary/Adrenal | ECE2018

Two year old follow up of Hypophysitis secondary to the checkpoint inhibitor Pembrolizumab - a case report

Anderson Cian , Griffin James , McKenna Susan , Santos Ana , Westrup Jenny , Kelleher Fergal , Griffin Margaret

Ipilimumab (an anti-CTLA-4 antibody) treatment has been associated with Immune Related Adverse Events (iRAEs) of the endocrine system. However the frequency of iRAEs in programmed cell death (PD-1) receptor agent use is incompletely characterised, though initial studies report an incidence of 0.5%. We present a case of Pembrolizumab-induced hypophysitis in a 47 yo. male with melanoma. Presenting in 2007 with an initial diagnosis of melanoma, with lymph node recurrence in 2013....

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ea0056p725 | Clinical case reports - Pituitary/Adrenal | ECE2018

Meningoencefalitis as a complication of transsphenoidal surgery of a pituitary adenoma: case report

Fernandez-Ladreda Mariana Tome , Iturregui Marta , Miranda Sancho Esperanza

Introduction: Transsphenoidal surgery is the preferred approach in patients with pituitary tumours. Transsphenoidal resection of pituitary tumors may account for as much as 20% of all intracranial operations performed for primary brain tumors. Meningitis is a rare complication accounting for less than 2% of procedures.Methods: We report the case of an elderly patient with a sellar mass who was admitted to the hospital with a central nerve system infectio...

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ea0056p726 | Clinical case reports - Pituitary/Adrenal | ECE2018

A family with Kallmann syndrome due to a novel FGFR1 mutation

Martins Ana Sousa , Gregory Louise , Dattani Mehul

Introduction: Kallmann syndrome (KS) is a developmental disorder characterised by hypogonadotropic hypogonadism and anosmia. Known genetic causes account for up to 30% of patients with KS, with FGFR1 mutations being identified in 10%. FGFR1-related KS has an autosomal dominant inheritance with incomplete penetrance. We present a family with KS due to a novel variably penetrant FGFR1 mutation, where the presenting features included cleft lip/palate and anosmia...

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ea0056p727 | Clinical case reports - Pituitary/Adrenal | ECE2018

Cushing disease and pregnancy: Report of 2 cases

Atraki Sara , Aziz Siham El , Bensbaa Selma , Chadli Asmaa

Introduction: Cushings syndrome usually causes hypogonadism. Occurrence of pregnancy in this context is rare, and is associated with significant morbidity and perinatal mortality. We report two cases of pregnancies in two patients with Cushings disease.Case 1: Our first Patient was 37-year-old who presented during the second trimester of pregnancy a Cushing syndrome. The positive diagnosis was made regadless clinical signs and a hight free ur...

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20th European Congress of Endocrinology

Clinical case reports - Pituitary/Adrenal

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