Clinical characteristics and treatment efficacy in patients with primary severe IGF-1 deficiency treated with recombinant IGF-1.

Aim Of The Study: To evaluate the clinical characteristics and treatment efficacy of patients with severe primary IGF-1 deficiency (PSIGFD) using a recombinant IGF-1 (rhIGF-1).

Objectives Of The Study: To examine the clinical characteristics of patients with PSIGFD before starting treatment with a rIGF-1. To assess the height changes in patients with PSIGFD, before and after treatment with a rhIGF-1.

Bone mineral density determinants in adolescents and young adults with congenital adrenal hyperplasia.

Background: The effects of long-term glucocorticoid (GC) treatment on bone mineral density (BMD) in patients with congenital adrenal hyperplasia (CAH) remain controversial.

Objectives: This cross-sectional study aimed to evaluate BMD in relation to genotype, growth, vitamin D status, cumulative GC doses, and other relevant factors in youths with CAH.

Methods: Thirty-two patients with classical CAH (13 males; mean age 26.

Development of a pediatric differentiated thyroid carcinoma registry within the EuRRECa project: rationale and protocol.

Background: Although differentiated thyroid carcinoma (DTC) is the most frequent endocrine pediatric cancer, it is rare in childhood and adolescence. While tumor persistence and recurrence are not uncommon, mortality remains extremely low. Complications of treatment are however reported in up to 48% of the survivors.

Psychological stress, emotions, and quality of life in men and women with congenital adrenal hyperplasia.

Aim: The aim was to assess perceived psychological stress, emotional state, and quality of life (QoL) in men and women with congenital adrenal hyperplasia (CAH) in comparison to age- and sex-matched control individuals.

Methods: Participants: 26 patients with CAH (11 men, 15 women, age 14-48 years) and 26 age- and sex-matched control individuals without CAH. Psychological assessment: Perceived Stress Scale, Profile of Mood States2, and WHO Brief Quality of Life Questionnaire.

Cardiometabolic Health in Adolescents and Young Adults with Congenital Adrenal Hyperplasia.

Background and objectives: Data on long-term cardiometabolic consequences in patients with congenital adrenal hyperplasia (CAH) are controversial. The aim of our study was to evaluate body mass index (BMI), body composition, blood pressure (BP) and insulin sensitivity in adolescents and young adults with CAH in comparison with healthy controls. Methods: Thirty-two patients with classical CAH (13 males; mean of age 26.

Impact of Newborn Screening on Clinical Presentation of Congenital Adrenal Hyperplasia.

: The main reason for Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) is to prevent adrenal insufficiency that can lead to life-threatening conditions. On the other hand, screening programs are not always sensitive and effective enough to detect the disease. We aimed to evaluate impact of the national NBS on the clinical presentation of patients with CAH in Lithuania.

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.

Two variants (c.[301_302delAG];[301_302delAG] and c.[150delA];[150delA]) in the PROP1 gene are the most common genetic causes of recessively inherited combined pituitary hormones deficiency (CPHD).

High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency.

Context: PROP1 gene mutations cause multiple pituitary hormone deficiency (MPHD).

Objective: We sought to expand experience with PROP1 mutation carriers by studying a large cohort of Lithuanian patients.

Patients And Methods: Sixty-seven MPHD patients were tested for PROP1 defects.