ESPE Abstracts

Introduction: Graves’s disease is frequent in women, its prevalence being 0.5–2% and its incidence 0.1–1% during pregnancy. Both TSH anti-receptor antibodies and the synthetic antithyroid drugs cross the placenta, increasing the risk of hypo- and/or hyperhtyroidism. Our objective is to describe the thyroid status of fetus and newborns from women with Graves’s disease referred to our Department.Materials and methods: We included childr...

Introduction: Signs of hyperandrogenemia are common through adolescent and young females, hirsutism affecting 5% of reproductive -aged women. The most common cause of hyperandrogenemia and insulin resistance (IR) is polycystic ovary syndrome (PCOS) (1). The differential diagnosis includes congenital adrenal hyperplasia (CAH) (2), androgen secreting tumors, but also very rare genetic syndromes of IR.Case report: A 13 year...

Background: Thyroid function in preterm infants is often altered for various reasons. LBW or VLBW newborns frequently present a particular form of congenital hypothyroidism (CH) characterized by low FT4 and delayed TSH elevation. The incidence of this disease is 1:250 for VLBW babies and 1:1589 for LBW newborns. In this condition, neonatal screening based solely on TSH can miss the diagnosis, therefore some screening programs have proposed to repeat the screening te...

Introduction: Patients with congenital adrenal hyperplasia (CAH) develop advanced bone age (BA) frequently. Treatment with aromatase inhibitors can slow down bone maturation and improve final height in cases of CAH. However, safety is not clear at this point.Case Presentation N 1 15.5 yrs. old boy was diagnosed with congenital adrenal hyperplasia, salt-wasting type at 4.9 years of age. His genetic analysis revealed that ...

Background: Contiguous gene syndromes are disorders caused by deletions of genes that are adjacent to one another. It is caused by partial deletion of Xp21, which includes the genes responsible for glycerol kinase deficiency, congenital adrenal hypoplasia, Duchenne muscular dystrophy (DMD) and intellectual disability. We report the case of a 14-day-old patient with this rare disease.Case report: A 14-day-old newborn was referred to our clinic for scrotal...

Background and objectives: The diagnosis of CAH is a matter of urgent attention as a missed diagnosis can add to mortality due to adrenal insufficiency and inadequate sex of rearing which is psychologically traumatic both for the parents and the child. It is also a matter of grave concern because screening facilities are non-existent in Pakistan along with increase prevalence of intra family marriages thus adding to the increase incidence of this condition. La...