ESPE Abstracts

Background: Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by utero-vaginal atresia in patients with a normal female phenotype and 46, XX karyotype. Various anomalies may accompany MRKH. The number of cases with accompanying hyperandrogenemia is limited.Case presentation: We describe a combination of Mullerian agenesis and hyperandrogenemia (total testosterone level 0.85 ng/ml) in a patient presenting with primary amenorrhea and mild hir...

Introduction: The co-occurrence of Turner Syndrome (TS) and Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKHS) has been rarely described in literature. The resulting clinical picture includes congenital aplasia of the uterus and of the upper two-thirds of the vagina and ovarian dysgenesis.Case Report: We hereby report the case of a 14-year-old girl referred to our endocrine outpatient clinic for pubertal delay. Her previous medical history ...

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 and Aims: Congenital adrenal hyperplasia (CAH) resulting from 11β-hydroxylase deficiency (11OHD) is a rare autosomal recessive (AR) disorder due to mutations in CYP11B1. Consequences are decreased cortisol secretion, elevated plasma levels of ACTH, and accumulation of steroid precursors causing abnormally high androgen synthesis and hypertension. High levels of 11-desoxycortisol provides diagnosis with certainty. However, in a cohort o...

Background: Obesity is characterized by an increase in fat mass caused by an increase in adipocyte number and adipocyte size and is often associated with adipose tissue (AT) dysfunction contributing to metabolic impairment. It is suspected that adipocyte progenitor cells play an important role during healthy and obesity-related AT expansion. Studies in adults showed that the stroma vascular fraction (SVF) of AT is composed of different progenitor cell subpopul...

We report on a 17-year-old patient with hypoparathyroidism which was noticed during the diagnosis of a first renal colic a year and a half ago. At that time, a prevesical ureter stone on the right could be depicted sonographically, which disappeared spontaneously. Initially calcium levels in serum and urine were reported to be normal. However, a slight hypercalcemia and hypercalciuria as well as high normal vitamin D levels without vitamin D substitution were detected intermit...

Background: Few studies have addressed the question of psychological impact and long term outcomes in MRKH patients.Objective and hypotheses: Our national multi-centric study aimed to assess MRKH patients’ experience concerning diagnostic announcement, treatment perception, impact on psychic functioning, socio-professional integration, affective and sexual life and quality of life.Method: First 40 MRKH patients aged 19–34...

Purpose: Clinical problems caused by impaired molecular function of inborn errors of immunity (IEI) genes are not limited to the immunological system but can also affect the endocrine system. An autosomal recessive form of severe congenital neutropenia also known as Kostmann syndrome (KS) is caused by mutations in the gene encoding the mitochondrial protein HAX1. Knowing that most endocrine disorders associated with IEI are hypofunction, a close cooperation be...

Background: The assignment to type 1 diabetes mellitus (T1DM) can be confirmed by the determination of diabetes-specific autoantibodies. Five different antibodies can be determined. The determination of several antibodies is more expensive than the determination of a single antibody. In times of scarce resources, the sequential determination of antibodies could save costs. The aim of this study was to determine the frequency of antibodies and their age and gen...