ESPE Abstracts

Background: Achondroplasia requires lifelong multidisciplinary care. With the advent of targeted medical treatment, The European Achondroplasia Forum (EAF) reviewed existing health surveillance measures in achondroplasia to determine whether they are still relevant.Methods: An online questionnaire was used to assess health status monitoring both in routine clinical practice and in determining response to vosoritide, curr...

Due to recent scientific progress in assisted reproductive techniques (ART), infertile couples can now become fertile. Thus, a number of infants in our country are the results of these costly interventions. This study has been undertaken to evaluate the physical growth of ART infants using standard growth charts from birth until 18 months of age.Methods: We measured the anthropometric data of 100 infants newborns conceived through ART intracytoplasmic sp...

Introduction: Congenital hypothyroidism (CH) is the most common congenital endocrine disorder in childhood and is one of the most common preventable causes of mental retardation. Thyroid hormones (TH) are essential for normal development of auditory system. Deficiency of TH during fetal and early postnatal sensitive periods of ear development, results in various degree of congenital hearing impairments or even in deafness if TH substitution is not instituted within a critical ...

Background: Functioning gonadotroph adenomas (FGAs) are very rare gonadotropin-secreting pituitary adenomas. Clinically, FGAs present only with mass effects. Nevertheless, central precocious puberty (CPP) has also been reported. Published data have demonstrated controversial opinions on the use of GnRH agonists in these patients, considering the risk of increase in tumor size and stimulating gonadotropin secretion. We herein report 3 cases diagnosed with CPP d...

Case presentation: We report a five -year-old girl who presented for evaluation of obesity, abdominal distension, vaginal bleeding for two days, and abdominal distention. There was no history of local trauma or vaginal discharge associated with the vaginal bleeding and no suspicion of abuse. There was no purpura or bleeding from other sites. Her HtSDS = -1.3 SD and BMI SDS = + 1.5 SD. A large abdominal mass was palpable. There was no hepatomegaly, splenomegaly or lymphadenopat...

A 6 year and 11 month -old girl of a Consanguineous parent. Her family history : has 2 sibling deaths in the neonatal period. her perinatal history :C/S, full term, NICU admission on the 5th day of birth due to vomiting and had generalized hyperpigmentation (external genitalia and skin with No atypical genitalia, her labs revealed hypoglycemia, hyponatremia and hyperkalemia, and her hormonal profile revealed sky high ACTH 2745 pg/ml (N.7.2-63.3 pg/ml), low cortisol 2 ug/dl (N....

Background: DCA 2000 is still a very popular device to determine HbA1c levels in diabetes practices through a finger stick. It allows clinicians to give immediate feedback to patients and to make changes in diabetes management during the three-monthly assessment.Objective and hypotheses: To compare HbA1c values measured with DCA 2000 with corresponding values measured with IFCC (considered as the reference method) in a single paediatric centre, to assess...

Introduction: Epilepsy or seizures are often observed in patients with diabetes mellitus (DM). Different types of seizures occur in approximately 25% of patients with DM. The exact cause remains undetermined. Moreover, a possible association between T1DM and epilepsy exists. Risk factors for epilepsy in T1DM include younger age at onset, recurrent hypoglycemia or DKA, and poor glycemic control.Aim of the work: The aim of...

Introduction: Quality of life (QoL) is a complex concept with multiple aspects as cognitive and emotional functioning; psychological well-being; general health; physical functioning; and social well-being and functioning. Stressors that appear with cases of Congenital adrenal Hyperplasia (CAH) vary and can present challenges to shared decision making with healthcare providers. Day-to-day care of a chronically ill child affects family finances and dynamics, as ...

Introduction: In virilized females with Congenital Adrenal Hyperplasia (CAH), the principal aims of surgery are to reduce the size of clitoris, create a vaginal orifice that will allow menstrual flow and intercourse, and to correct the urogenital sinus to prevent incontinence.Surgical techniques evolved with time to make not only "cosmetically accepted" genitalia but also normally functioning. The complications of feminizing geni...