ESPE Abstracts (2021) 94 P1-81

ESPE2021 ePoster Category 1 Pituitary A (10 abstracts)

Sporadic pituitary adenomas in young patients: clinical and molecular description

Idoia Martinez de LaPiscina 1 , Nancy Portillo 2 , Itxaso Rica 3 , Sonia Gaztambide 4 & Luis Castano 5

1Biocruces Bizkaia Health Research Institute, University of the Basque Country (UPV-EHU), Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), European Reference Network on Rare Endocrine Conditions (Endo-ERN), Barakaldo, Spain; 2Biocruces Bizkaia Health Research Institute, Pediatric Department, Alto Deba Hospital, UPV-EHU., Barakaldo, Spain; 3Biocruces Bizkaia Health Research Institute, Pediatric Endocrinology Department, Cruces University Hospital, CIBERER, CIBERDEM, Endo-ERN., Barakaldo, Spain; 4Biocruces Bizkaia Health Research Institute, Endocrinology Department, Cruces University Hospital, UPV-EHU, CIBERER, CIBERDEM, Endo-ERN, Barakaldo, Spain; 5Biocruces Bizkaia Health Research Institute, Pediatric Endocrinology Department, Cruces University Hospital, UPV-EHU, CIBERER, CIBERDEM, Endo-ERN, Barakaldo, Spain

Introduction: Pituitary adenomas (PA) in pediatric and young patients comprise a rare pathology of unknown prevalence. The majority are sporadic, but 5% occur in a familial setting, either as isolated (FIPA) or as part of a syndrome. The identification of genetic alterations has broaden the scope of molecular investigations. We describe the clinical characteristics of patients with sporadic PA arising before the age of 35 years and perform thorough genetic screening for germline variants in probands and relatives.

Patients and Methods: We collected clinical characteristics at diagnosis of 265 patients (≤35 years) with a sporadic PA. Genetic screening was performed via next-generation sequencing using a customized gene panel and array comparative genomic hybridization. Clinical variables were compared among positive and negative patients in the pediatric and adolescent (<19 years) and young adults’ cohort (≥19-35 years).

Results: Among the total cohort, mean age was 19.5 years and 63.0% were females. Local mass effect symptoms were present in 23% and prolactinomas were the most frequent (45.3%). We identified disease-causing germline variants in 20 patients (Table 1). Genetically positive patients were younger and had larger tumor size at diagnosis. Healthy family carriers were also identified.

Case (Gender)AgeType of PATumor size(mm)SurgeryGenetic alteration
Pediatric and adolescents (<19 years)ME0297(F)17.3GH30.0YesAIP,c.64C>T;p.R22
ME0377(M)3.1GH38.0NoCDKN1B, c.160G>C;p.E54Q
ME0201(F)3.6GHEnlarged sella turcaNoXq26.3(135.615.258-136.262.002)X3
Young adults (19- 35 years)ME0191(M)23.0PRL10.0NoAIP,c.26G>A;p.R9Q

Conclusions: Variants in genes associated with syndromic forms of PA were detected in a large cohort of sporadic PA. We have identified novel variants in well-known genes, such as MEN1 and emphasized the lack of penetrance within families.

Volume 94

59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

European Society for Paediatric Endocrinology 

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