ESPE Abstracts

Background: Persistent Mullerian duct syndrome (PMDS) is a rare genetic disorder of internal male sexual development defined as a lack of regression of Mullerian derivatives in an otherwise normally virilized XY male. Approximately 85% of the cases are caused by mutations of the Anti-Mullerian hormone (AMH) or its’ receptor (AMHR-II) genes. In the current study, we report a novel homozygous mutation in the AMHR-II gene in a patient with PMDS and discuss the dilemma of the...

Background: Marfan syndrome is an autosomal dominant genetic disorder with skeletal, cardiac, and ocular involvement. Mutations in the fibrillin-1 gene on chromosome 15 are responsible for the development of the syndrome.Objective: To present one case of neonatal Marfan syndrome.Case: The patient was a 1-day-old female neonate who was born at 36 weeks gestation via normal delivery. Her body weight was 2900 g and height 48 cm. Ultra...

Background: Idiopathic hypogonadotropic hypogonadism (HH) is highly genetically heterogeneous. To date, about 50 causative genes have been identified, estimated to account for up to 50% of hereditary cases. With next generation sequencing (NGS) technology now in wide clinical use, it is increasingly possible to determine the underlying genetic etiology of isolated and combined pituitary hormone deficiencies.Objective: We...

Backround: Hereditary inborn errors of thyroid hormone synthesis account for 10-15% of congenital hypothyroidism (CH). Thyroid peroxidase (TPO) deficiency is the most common enzymatic defect with a frequency of 50-90%.Aim: In the present study our objective was to characterize the long-term clinical outcome in patients with TPO deficiency and to assess the association between development of multinodular goiter (M...

Introduction: The physiological process by which vitamin D regulates calcium and phosphorus metabolism, the major mineral constituents of bone tissue, is by far very well understood. However, the clinical implementation of vitamin D deficiency on bone fragility in childhood remains controversial.Objective: The aim of this case-control study is to investigate the prevalence of vitamin D deficiency among Lebanese children who experienced a ‘low-energy...

Background: A high rate of hearing impairment has been reported in patients with congenital hypothyroidism (CH). However, this association has only been explored in a few studies with inconclusive findings.Objectives: To assess the prevalence of hearing impairment among patients with CH and determine whether hearing impairment is related to delay in supplemental therapy, etiology of CH or other parameters.Methods: Audiometry was un...

Background: Hypercortisolism due to PPNAD may be cyclical, atypical and may develop suddenly or progressively.Objective and Hypotheses: The performance of salivary cortisol (SF) in this rare cause of Cushing’s syndrome (CS) is lacking.Method: Ten patients (nine F/one M) with PPNAD (two sporadic; eight Carney complex) were evaluated. Among these, six had CS family history, while in two the diagnosis was confirmed by germline PR...

Background: Endocrine disorders associated with tall stature in childhood are frequently evaluated by Pediatric Endocrinologists. The most common non-endocrine genetic cause of tall stature, Marfan syndrome, is a rare autosomal dominant genetic condition of the connective tissue, which presents with specific dysmorphic features, including thin physique, long extremities and normal growth rate. Little is known regarding the association of Marfan syndrome with o...

Background: Marfan syndrome is one of the most common over-growth conditions and the cardinal features occur in ocular, skeletal and cardiovascular systems. Clinical variation is common and signs are age-dependent.Case: A 9-year-old girl was referred to our pediatric endocrinology clinic for tall stature. Physical examination revealed a lens dislocation with strabismus, high palate, positive wrist and thumb signs, joint hypermobility, and pes plenus. Dil...

Background: Patients with Marfan syndrome (MFS) presents with primary skeletal manifestations such as tall stature, chest wall abnormality, and scoliosis. And these primary skeletal manifestations affect the growth pattern in MFS. Therefore, it is not appropriate to use normal growth charts to evaluate the growth status of MFS.Objective and hypotheses: We aimed to develop disease-specific growth charts for Korean MFS patients and to use these growth char...