hrp0086p2-p661 | Growth P2 | ESPE2016

‘First Do No Harm’: Growth Hormone (hGH) Treatment in a Case of Recurrent Craniopharyngioma

Zmau George-Sebastian , Armasu Ioana , Beleceanu Alina , Bursuc Anamaria , Puiu Mirela , Poeata Ion , Preda Cristina , Vulpoi Carmen

Introduction: Craniopharyngiomas (CP) are benign, dysontogenic supra or intra-sellar tumours. They are locally aggressive with severe endocrine, neurological and ophthalmological implications. Somatotroph deficiencies rise therapeutic management problems due to increased risk of tumour growth and recurrence.Case report: Male patient, aged 18 years 4 months, born naturally, late-term (42 weeks, 3200 g, Apgar 7), third child in a brotherhood of four (appar...

hrp0086p2-p787 | Pituitary and Neuroendocrinology P2 | ESPE2016

Giant Macroprolactinoma in a Female Adolescent – Case Report

Hreniuc Ana , Gherasim Simona , Ungureanu Maria-Christina , Preda Cristina , Vulpoi Carmen , Mogos Voichita , Rotariu Daniel , Poeata Ion , Leustean Letitia

A female patient was firstly evaluated at the age of 12 years, complaining of headaches and visual loss. Physical examination demonstrated adequate height and weight, Tanner stage P1B1. Papillary edema was confirmed by fundus examination. MRI showed a pituitary macroadenoma, 6.6×7.3×6.1 cm with compression of the optic chiasm and bilateral cavernous sinus invasion. The first prolactin value obtained was 169.164 uUI/ml (normal<210) with the other pituitary axis wi...

hrp0086p2-p879 | Syndromes: Mechanisms and Management P2 | ESPE2016

SHORT Syndrome and rhGH Treatment – Is It Useful?

Armasu Ioana , Crumpei Iulia , Vasiliu Ioana , Rusu Cristina , Braha Elena , Zetu Irina , Raileanu Daniela , Preda Cristina , Vulpoi Carmen

Background: SHORT syndrome is an autosomal dominant genetic multisystem disorder determined by PIK3R1 gene mutations, which normally plays a role in cell signalling. SHORT is an acronym for short stature, hyperextensibility of joints and/or hernia, ocular depression, Rieger anomaly and teething delay. It is a rare condition; its prevalence is unknown with only few affected individuals and families reported worldwide.Case report: We report a case of 4 yea...

hrp0082p2-d3-508 | Perinatal and Neonatal Endocrinology | ESPE2014

Various Presentations of X-linked Adrenoleukodystrophy: Case Reports

Fadur Alina Daniela , Constantinescu Aurora , Rusu Cristina , Manolachie Adina , Bodescu Ioana , Branisteanu Dumitru D , Preda Cristina , Mogos Voichita , Vulpoi Carmen

Background: Adrenoleukodystrophy (ALD) is an X-linked disease characterized by impaired β-oxidation of very long-chain fatty acids (VLCFA) and in the most severe cases by inflammatory demyelination in the brain, adrenocortical insufficiency (AI), and death. Seven phenotypes were described, with a higher prevalence of the cerebral forms.Case report: We report two cases of ALD with different evolution, in February 2014. First case, an 11 years old boy...

hrp0082p3-d3-870 | Growth (4) | ESPE2014

Primary Amenorrhea with Normal Stature: Why Not Turner Syndrome?

Hristov Ioana , Hreniuc Ana , Gherasim Simona , Ungureanu Maria-Christina , Preda Cristina , Vulpoi Carmen , Mogos Voichita , Leustean Letitia

Background: Turner syndrome is the most common sex chromosome disorder in females and occurs in about 1/2500 newborn girls worldwide. On chromosomal analysis, the various karyotypes observed are: 45,X (50%); 45,X/46,XX (20%); 46,X, i(Xq) (15%); 46,X, r(X) or 46,X, del(X) (10%); and others (5%).Objective and hypotheses: We present the case of a 17-year-old girl referred to our service for primary amenorrhea. Clinical examination: height=163 cm (62nd perce...

hrp0082p3-d2-988 | Thyroid (1) | ESPE2014

Thyrotoxicosis in Childhood and Adolescents

Hreniuc Ana , Leustean Letitia , Bodescu Ioana , Hristov Ioana , Gherasim Simona , Preda Cristina , Vulpoi Carmen , Mogos Voichita , Ungureanu Christina

Background: There are many aspects of the child thyrotoxicosis similar as in adult but there are also particular characteristics. Thyrotoxicosis is rare in childhood and in majority is about Grave’s Disease.Study Group: 61 patients with ages between 9 and 19 years that were admitted for hyperthyroidism in our department for 19 years. The diagnosis was sustained by clinical signs, hormonal profile, and ultrasound and scintigraphy exam.<p class="a...

hrp0084p3-604 | Adrenals | ESPE2015

Severe High Blood Pressure with Renal Failure in a Neglected Case of 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia

Belceanu Alina Daniela , Munteanu Mihaela , Florea Mariana , Ungureanu Maria-Christina , Zmau George , Puiu Mirela , Armasu Ioana , Mogos Voichita , Vulpoi Carmen

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterised by impaired cortisol synthesis. An enzymatic defect in 11-beta-hydroxylase is the second most common variant of CAH and accounts for approximately 5–8% of cases. Patients present with features of androgen excess and approximately two thirds of patients also have high blood pressure (HBP), which is initially responsive to glucocorticoid replacement, but may become a c...

hrp0084p3-682 | Bone | ESPE2015

Metadiaphyseal Dysplasia Associated with Confirmed GH Deficiency: Family Report

Armasu Ioana , Braha Elena , Crumpei Iulia , Vasiliu Ioana , Manolachie Adina , Puiu Mirela , Zetu Irina , Mogos Voichita , Vulpoi Carmen

Background: Skeletal dysplasias are a heterogeneous group of more than 200 disorders characterised by abnormalities of cartilage and bone growth, resulting in abnormal shape and size of the skeleton.Case presentation: We present two children (brother 7 years and sister 11 years), investigated for growth retardation, part of five children brotherhood from apparently healthy non-consanguineous couple (mother’s height=158 cm and father’s height=16...

hrp0084p3-959 | GH &amp; IGF | ESPE2015

Late Diagnosis of a Type II/III Mucolipidoses Treated with GH Replacement Therapy

Crumpei Iulia , Belceanu Alina , Armasu Ioana , Braha Elena , Rusu Cristina , Manolachie Adina , George Zmau , Preda Cristina , Vulpoi Carmen

Background: Mucolipidoses II/III (ML) are rare autosomal recessive lysosomal storage disorders (incidence: 1/325 000 live births). They have overlapping clinical phenotypes with mucopolysaccharidosis disorders and include growth retardation, facial dysmorphism, skeletal abnormalities, respiratory and heart diseases, hepatosplenomegaly and abdominal hernias. There is no specific treatment and the management has been limited to supportive care.Case present...

hrp0084p3-1038 | Growth | ESPE2015

Short Stature in a Rare 15q Duplication – is hGH Treatment Beneficial?

Manolachie Adina , Rusu Cristina , Braha Elena , Crumpei Iulia , Belceanu Alina , Puiu Mirela , Anton Mihaela , Leustean Letitia , Vulpoi Carmen

Introduction: Distal chromosome 15 duplication is a very rare genetic disease, first described in 1974 by Fujimoto et al. The symptoms and physical findings include prenatal and/or postnatal growth retardation, mental retardation, poor speaking abilities, asymmetrical dysmorphic facial features, malformations of the fingers and/or toes and sometimes heart conditions.Case report: We report a case of a 2 years 5 months old girl, born with SGA (uterine grow...