ESPE Abstracts

Background: Idiopathic hypogonadotropic hypogonadism (IHH) is a congenital heterogeneous disorder characterized by a deficiency of gonadotropin-releasing hormone. IHH can be categorised as IHH with anosmia/hyposmia (Kallmann syndrome: KS) or as normosmic (n)IHH. More than 25 genes have been identified in IHH. Nevertheless, patients with IHH are genetically diagnosed in only less than 50%.Objective: The objective of this study is to confirm the applicatio...

Background: Pituitary abscess is a rare disorder, representing less than 1% of pituitary lesions. Preoperative diagnosis is often difficult due to non-specific symptoms and image findings.Case Report: Here, we report the case of a 10-year-old girl with a pituitary abscess. She presented with polyuria and polydipsia and headache for the past year. Magnetic resonance imaging revealed polycystic lesion in the sella turcica ...

Background: Wiedemann–Steiner syndrome (WSS) is a rare autosomal dominant disorder characterized with hypertrichosis cubiti, dysmorphic facial appearance (hypertelorism, thick eyebrows, and narrow palpebral fissures), psychomotor delay, and short stature. WSS is caused by a mutation in the KMT2A gene. The timing of secondary sexual characteristics in patients with WSS is not well known. To our knowledge, two patients (one boy and one girl) with W...

Background: Partial Androgen Insensitivity Syndrome (PAIS) is characterized by varying degrees of masculinization defects due to impaired androgen action, resulting in a wide range of physical and psychological phenotypes.Case 1: 18-year-old with a male social gender. The patient presented with hypospadias, micropenis, and cryptorchidism during the neonatal period, and received testosterone therapy during infancy, but sh...

Introduction: Iodide transport in the thyroid is crucial for thyroid hormone synthesis. A homozygous loss-of-function mutation in the SLC26A4gene coding an iodide transporter located at the apical side in the thyroid follicular cells causes Pendred syndrome accompanied with goitrous congenital hypothyroidism (CH) and sensorineural deafness. However, about half of patients with Pendred syndrome demonstrate normal thyroid function. This indicates anothe...