ESPE Abstracts

Introduction: In the rare aromatase excess syndrome aromatase turnover from androgens to estrogens is constitutively increased. Affected males show signs of hyperestrogenism such as feminization (particularly gynecomastia), hypogonadism, and short adult height due to early epiphyseal closure.Case report: Here, we report the different statural growth of two first degree cousins affected by aromatase excess syndrome. Both carried the same heterozygote dele...

Background: Silver-Russell syndrome (SRS) is reported to be associated with early adrenarche, but substantial studies are lacking.Objective and hypotheses: We aimed to determine the median age at onset of adrenarche, the prevalence of premature adrenarche as well as its causes and consequences.Method: Currently we have collected longitudinal data from 40 children with SRS seen during the last 20 years in our centre. The patients fu...

Background: Determining fat mass (FM) using methods of body composition analysis is useful in diagnosis and treatment of obese adolescents who undergo life style intervention. The use of dual-energy X-ray absorption (DXA) is time-consuming, potentially harmful and expensive. Alternative methods for accurately estimating FM are needed.Objective and hypotheses: We evaluated single-frequency arm-to-leg bioelectrical impedance analysis at 50 kHz (sf-BIA) in ...

Background: Recently we demonstrated that male adolescents with severe GHD (sGHD) had a significant decrease of lean body mass and increase in fat mass after stop of GH-therapy. The functional consequence of this observation is unknown.Objective and hypotheses: The aim was to study the changes in parameters of jumping mechanography in adolescents with GHD in the transition period (end of growth) after stop of GH-therapy.Patients an...

Background: Male adolescents with severe GH deficiency show both loss of lean body mass (LBM) and gain of fat free mass (FFM) when off GH treatment. We recently showed that determining gain of FFM and loss of LBM by dual-energy x-ray absorption (DXA) is helpful in the diagnosis of severe GHD during transition as these body composition changes are correlated to the GH-peak of the arginine-GHRH-re-test.Objective and hypotheses: We wanted to explore if the ...

Background: A small subgroup of children with isolated growth hormone deficiency (IGHD) develop central hypothyroidism (CH) during GH treatment. Prognostic parameters are still unclear.Objective and hypothesis: Long-term evaluation of children with initial diagnosis of IGHD to identify those with an unmasking CH under GH treatment. IGHD was diagnosed in children with short stature, low height velocity, retarded bone age,...

Spontaneous pregnancies are rare in women with Turner syndrome (5.6-13%) and are often associated with a mild phenotype (late diagnosis), a normal cell lineage within a mosaic karyotype and normal pubertal maturation. Proposed biomarkers to predict fertility are AMH and ovarian histology, but none are certain. We report on an 18-year-old teenager who became pregnant despite having protected sexual intercourse (condom). At the age of 15.5 years, she was diagnosed with Turner sy...

Background: Constitutional delay of growth and puberty (CDGP) is one of the most frequent norm variants in children presenting with short stature. Knowing the height, growth, and weight pattern of CDGP in the first years of life is important to distinguish CDGP from growth hormone deficiency (GHD) or other diseases.Methods: We studied height and weight in the first 5 years of life in 54 boys with CDGP including measureme...

Background: For children with retarded bone ages such as in constitutional delay of growth and puberty (CDGP) there are no specific methods to predict adult height based on bone age. Widely used methods such as Bayley-Pinneau (BP) tend to overestimate adult height in CDGP. Therefore, we aimed to develop a specific adult height prediction model for boys in pubertal age with retarded bone age >1 year.Methods</...

Background: Restarting rhGH treatment in adolescents with childhood-onset GH deficiency (CO-GHD) is usually based on the GH re-test, IGF-1, additional pituitary hormone deficiencies and pituitary gland morphology, but not on body composition. Short-term changes of body composition in adolescents with CO-GHD when off rhGH may contribute to the identification of those in need of continuation of treatment.Study design: In this prospective single-centre stud...