ESPE Abstracts

ESPE Abstracts

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Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

Poster Category 3

Adrenals & HP Axis (1)

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Autoimmune Endocrine Disease

hrp0082p3-d2-634 | Adrenals & HP Axis (1) | ESPE2014

Prenatal Dexamethasone Use for the Prevention of Virilization in Pregnancy at Risk for Classical Congenital Adrenal Hyperplasia

Fernandez Maria Sanz , de Leon Esther Gonzalez Ruiz , Iniguez Elena Dulin , Zubicaray Begona Ezquieta , Arnao Dolores Rodriguez , Sanchez Amparo Rodriguez

Background: The most common form of congenital adrenal hyperplasia (CAH) is 21-hydroxylase deficiency, which in its severe form can cause genital ambiguity in females. This can be ameliorated by administering dexamethasone to the mother.Case: This is a family whose index case is a first son diagnosed by Madrid Newborn Screening Program of CAH with salt-wasting form due to 21-hydroxylase deficiency. Mutation analysis revealed: ‘hybrid deletion’ ...
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hrp0082p3-d2-635 | Adrenals & HP Axis (1) | ESPE2014

Congenital Adrenal Hyperplasia: Survey of the Management in Children Across UK

Niranjan Usha , Natarajan Anuja

Background: The ultimate goal in the management of congenital adrenal hyperplasia (CAH) in children is to achieve normal growth and development which can be a challenge. The consensus guidance recommends hydrocortisone (10–20 mg/m2 per day) and fludrocortisone(50–200 μg/day) therapy titrated carefully with regular monitoring.Objective and hypotheses: To determine the current practise in UK regarding the management of CAH in chil...
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hrp0082p3-d2-636 | Adrenals & HP Axis (1) | ESPE2014

Neonatal Hypercalcaemia Associated with Congenital Adrenal Hyperplasia

Binay Cigdem , Simsek Enver , Tekin Neslihan , Demiral Meliha

Background: Adrenal insufficiency is an important and potentially life-threatening condition, and it is also known as a rare cause of hypercalcaemia.Objective and hypotheses: Resistant hypercalcemia may be associated with hypocortisolism.Method: A 18-day-old male infant was born at 36 weeks by emergency cesarean section for fetal distress and intrauterine growth retardation. He was referred to paediatric endocrinology because of th...
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hrp0082p3-d2-637 | Adrenals & HP Axis (1) | ESPE2014

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hrp0082p3-d2-638 | Adrenals & HP Axis (1) | ESPE2014

Addison Disease and Atrophic Gastritis: High Persistent ACTH Levels Although an Adequate Treatment

Prinzi Eugenia , Serraino Francesca , Maggio Maria Cristina , Corsello Giovanni

Background: Primary Addison’s disease (AD) is a rare endocrine condition, with reduced or absent secretion of adrenal hormones. Steroid replacement therapy normalizes endocrine assess and the quality of life. More than a half of patients display additional autoimmune conditions, which represent a considerable clinical concern.Objective and hypotheses: Antiparietal cells antibodies (APC-Ab) are commonly found in patients with autoimmune Addison’...
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hrp0082p3-d2-639 | Adrenals & HP Axis (1) | ESPE2014

Four Cases of Ovarian Adrenal Rest Tumors in Chinese Girls with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Zhe Su , Jun Zhang , Huamei Ma , Qiuli Chen , Minlian Du , Yanhong Li , Hongshan Chen

Background: Ovarian adrenal rest tumors (OART) is a rare complication of congenital adrenal hyperplasia (CAH) and is not very well characterized yet.Objective and hypotheses: We report four cases of OART in Chinese girls with CAH due to 21-hydroxylase deficiency (21 OHD).Method: We describe the clinical, imaging, and surgical findings of the patients.Results: The four cases of CAH with OART included three sal...
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hrp0082p3-d2-640 | Adrenals & HP Axis (1) | ESPE2014

Therapeutic Troubles of Cushing’s Disease in Adolescence: Report of a Case

Deiana Manuela , Losa Marco , Trettene Adolfo , Scolari Alessandra , Salvatoni Alessandro

Background: Cushing’s disease, due to ACTH-secreting pituitary adenomas, is rare in the pediatric age (0.2–0.5/ million people per year), although accounts for 75–80% of Cushing syndrome in childhood compared to 49–71% in adulthood. We report clinical presentation, diagnostic workup and treatment of a new case with major therapeutics problems.Case report: A 15-year-old girl was referred to our clinic because of secondary amenorrhea, a...
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hrp0082p3-d2-641 | Adrenals & HP Axis (1) | ESPE2014

Congenital Hypoaldosteronism of Unknown Etiology in Five Half-Siblings

Foote Jan , Cook Jennifer

Background: The children had normal 21-hydroxylase screening. An atypical form of congenital adrenal hyperplasia was initially suspected. The first child (female) had hyponatremia, hyperkalemia, elevated ACTH, and elevated androgens at birth. The second child (male) presented at 16 days with hyponatremia, hyperkalemia, normal cortisol, very elevated renin, low aldosterone, and elevated deoxycortisol. The third (female) and fourth (male) siblings had similar electrolyte abnorma...
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hrp0082p3-d2-642 | Adrenals & HP Axis (1) | ESPE2014

X-Linked Adrenoleukodystrophy in eight Patients

Meng Zhe , Liang Liyang , Zhang Lina , Hou LeLe , Liu Zulin

Background: Adrenoleukodystrophy (ALD) is a genetic disease associated with demyelination of the CNS, adrenal insufficiency, and accumulation of very long-chain fatty acids in tissue and body fluids.Objective: To research the clinical features, laboratory tests, imaging examinations and treatment on children who suffer from X-linked ALD. Also aim at revealing the correlation between the severity of disease and level of very long chain fatty acids (VLCFAs...
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hrp0082p3-d2-643 | Adrenals & HP Axis (1) | ESPE2014

The Ganglioneuromas: About Eight Cases

Haddam Ali el Mahdi , Fedala Soumeya , Meskine Djamila , Chentli Farida , Laloui Amina , Ali Leila Ahmed

Background: The ganglioneuroma (GN) is a benign tumor of the sympathetic nervous system following the sympathogonies that affects children and young adults. This is a rare tumor (7/1 000 000) which can be located along the sympathetic chain from the neck to the pelvis. In 20% of cases, the GN is localized in the adrenal.Objective and hypotheses: Report observations of eight patients with GN.Observations: Eight patients (two boys an...
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hrp0082p3-d2-644 | Adrenals & HP Axis (1) | ESPE2014

Cushings Syndrome without Origin

Queirolo Sara , Balice Piero

Background: Cushings syndrome is a rare entity in children and generally it presents a female to male predominance. The most common cause in childhood is iatrogenic Cushings syndrome related to chronic administration of glucocorticoids or ACTH. Endogenous Cushings syndrome is divided into ACTH dependent (ACTH overproduction due to pituitary adenoma or ectopic production) and in ACTH independent causes (surrenal adenoma, carcinoma, or bilateral hyperplasia).<p class="abstex...
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hrp0082p3-d2-645 | Adrenals &amp; HP Axis (1) | ESPE2014

Untreated Congenital Hyperplasia with Central Precocious Puberty

Dimitrova Mihaela , Stefanova Elisaveta , Kazakova Krasimira , Yordanova Desislava , Todorova Zdravka

Background: Congenital adrenal hyperplasia (CAH) may cause early maturation of hypothalamic–pituitary–gonadal axis when the initiation of corticosteroid treatment is late or/and there is poor compliance. The latter sometimes leads to a lack of treatment. In most cases, if the child survives, he or she develops central precocious puberty.Case report: We present a 12-year-old boy born of a normal pregnancy and delivery. In the first months of lif...
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