ESPE Abstracts

Here we describe a 10 week old previously healthy infant that underwent several severe adrenal crises marked by electrolyte disturbances (K=7.8 Na=128), and cardiorespiratory resuscitation (intubation and pressors). The adrenal insufficiency developed while admitted after developing a short febrile illness, and severe prolonged watery diarrhea, accompanied by development mild hypertransaminasemia and rash. Crises were characterized by elevated Renin 119 mU/l [Ref: 3.4-64], ina...

Introduction: Peripheral precocious puberty is a non-gonadotropin-dependent early pubertal development. Exogenous intake of sex steroids, gonadal or adrenal pathologies, ectopic hCG-secreting lesions play a role in the etiology. Adrenal tumors is a rare cause of heterosexual precocious puberty.Case: An eight-year-old female patient was admitted with the complaints of genital hair growth and breast enlargement. The patien...

Autoimmune polyglandular syndrome (APS), on the other hand, is a cluster of endocrine disorders resulting from immune dysregulation, often accompanied by damage to non-endocrine organs. There are 2 types of APS: type 1 and type 2 (APS-1 and APS-2). Type 2 APS is characterized by the development of organ- and tissue-specific antibodies. In those with Addison's disease, antibodies to the 21-hydroxylase enzyme found in the adrenal cortex are present in more than 90% of patie...

The calcium-sensing receptor (CaSR) is a member of the G protein coupled receptor family. It is mostly found in the parathyroid gland and renal tubule. CaSR disorders occur with inherited or acquired mutations. Familial hypocalciuric hypercalcemia syndromes are associated with inactivating mutations in CaSR. The heterozygous form is “benign familial hypercalcemia” and the homozygous form is “neonatal hyperparathyroidism”. In this article, “benign ...

Introduction: Diabetes mellitus can develop as a result different etiology. Mitochondrial diseases may also cause diabetes mellitus. However, mitochondrial mutations are generally thought to be accompanied by a severe clinical finding. We present a patient who is determined 80% heteroplasmic deletion in the MT-DNT1 gene, with hearing loss and mitochondrial diabetes, which is quite different from the classical phenotype.Case:</str...

Background: Hyponatremia is an electrolyte disorder, that may lead to severe complications such as rhabdomyolysis, seizures, coma, and death. Clinicians do take hyponatremia seriously. However sometimes clinicians should be careful in interpreting the low laboratory sodium level as it does not necessarily reflect the actual natremic status especially when the patient is euvolemic and having normal serum osmolality, for which pseudohyponatremia should be consid...

Background: Congenital hypopituitarism (CH) is a group of disorders characterized by deficiencies in one or more hypophyseal hormones and a marked variability in genotype-phenotype correlations. Central diabetes insipidus (DI) is caused by a decreased release of ADH and results in a variable degree of polyuria. Their association is normally found in congenital cerebral midline abnormalities, such as septo-optic dysplasia.Objectiv...

Introduction: Thyroid diseases are among the most common endocrine disorders affecting children and adolescents. These conditions are often associated with a wide range of skin disorders such as xerosis, mixedema, hypohidrosis, eczema, and more rarely hypertrichosis.Case: A 5-year-old female child was referred to our clinic due to short stature, Cushingoid appearance and marked hypertrichosis. At birth length and weight ...

Sex-steroid hormones such as testosterone and estradiol play a key role in sexual differentiation during gestation but exert also strong effects on the body and the brain during puberty or even in adulthood. In addition, influences on cognition and emotional processing are frequently reported. The investigations of transgender people undergoing cross-sex hormone therapy provide a unique model for studying those effects on gray and white matter brain structure in vivo by using ...

Introduction: An activating mutations in the ABCC8 gene cause both transient and permanent neonatal diabetes mellitus (DM) or MODY 12. In relation to the variant in the ABCC8 gene, patients may also present with either neonatal hyperinsulinism and/or DM later in life. Besides, the same variant can cause different phenotypic features among family members. Response to the sulfonylurea treatment may vary between patients.<...