ESPE Abstracts

Introduction: Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease caused by GnRH deficiency. It is characterized by absent or incomplete puberty with infertility due to inadequate secretion of LH and FSH. Inactivating mutations in KISS1R is transmitted as a recessive trait. It is also known as the GPR54 gene, and encodes a G-protein-coupled receptor or receptor for kisspeptins. The binding of kisspeptin to these receptors in the hypo- thal...

Introduction: NDM is a rare disease diagnosed in the first 12 months of life. It is either transient or permanent. Early recognition of mutation in KCNJ11 and ABCC8, which account for approximately 40% of NDM, is essential to consider oral sulfonylurea for responsiveness mutations.Aim: To study the efficacy and safety of oral sulfonylurea in a long-term follow-up (15 years) for the first successful switch from insulin to...

Background: McCune-albright syndrome is clasiically defined by the clinical triad of fibroud dysplasia of bone (FD), café-au-lait spots and precocious puberty. It is a rare disease with variable presentation caused by somatic (non-germline) gain of function mutation in GNAS gene. It can affects both endocrine and non-endocrine tissue. In addition to precocious puberty, other hyperfunctioning endocrinopathies may be involved including hyperthyroidism, growth excess, cushin...

Background: Neonatal thyroid screening is considered one of the best cost-effective tool to prevent mental retardation in population. Different strategies are suggested for thyroid hormone estimation in the sample obtained at birth using cord blood or later in neonatal period. In King Abdulaziz Medical City, cord TSH is the screening tool to detect congenital hypothyroidism cases with a cut off value of 30 MIU/l considered positive result. In 2011, newborn screening programme ...

Testicular adrenal rest tumors (TARTs) may develop in some patients with congenital adrenal hyperplasia (CAH), probably from overstimulation of adrenocorticotrophic hormone (ACTH) to remnants of intra-testicular adrenal tissue. TARTs can lead to structural testicular damage and infertility. Although rare, they may occur when CAH patients are non-compliant with glucocorticoid therapy. Due to their deep-sited location, usually only TARTs of more than 2 cm are palpable, hence, th...

Background: PHA is a rare, but life threatening condition, that usually presents with impressive hyperkalemia. It can be initially missed as congenital adrenal hyperplasia (CAH). We present a series of these patients to increase the awareness of treating physicians about misdiagnosis and pitfalls in management.Case Report: We admitted 4 cases in our institution between 2017-2021. Case one, three and four were all 7 days ...

Introduction: Sanjad-Sakati-Syndrome (SSS), or hypoparathyroidism-retardation-dysmorphism syndrome (HRDS), is primarily observed in individuals of Middle Eastern descent due to a recessive founder mutation in exon 3 of the TBCE gene. Little is known about disease evolution, endocrine features, management and cause of early death.Aim: To gain better understanding of growth, full phenotypic spectrum, endocrine fea...