Endocrine Abstracts

Introduction: Congenital nephrotic syndrome (CNS) is defined as heavy proteinuria starting within three months after birth. It affects approximately 1 to 3 per 100 000 children worldwide. The classical form is the Finnish type, caused by mutations in the nephrin gene. Approximately 50 percent of all nephrotic patients have low total thyroxine (T4) concentrations resulting from urinary losses of T4-binding globulin (TBG) and other thyroid hormone-binding protei...

Background: Recurrent middle ear disease may lead to poor growth or may suggest an underlying diagnosis associated with short stature. The aim of the study was to describe stature in a cohort of girls attending a paediatric ENT service.Methods: Height and weight was measured in all girls attending ENT clinics over an 8 week period (n=83). A mid-parental height (MPH) was calculated from reported parental heights. Th...

Introduction: Middle ear disease in Turner syndrome (TS) is common, often resulting in troublesome temporary hearing loss, and more rarely to serious suppurative disease with cholesteatoma formation. We have examined the prevalence and pattern of middle ear disease in our TS clinic in relation to age and karyotype.Methods: Case note review of all girls with TS attending clinic 1989–2012, scoring the most serious middle ear problem for each as: none ...

Objectives: To measure linear growth of patients and the magnitude of catch-up growth and changes and IGF1 concentration.Design: This prospective study recorded the anthropometric data and measured the IGF1 of 32 infants and children with congenital acyanotic heart disease (CAHD) with left to right shunt (14 VSD, 10 ASD, and 8 PDA) without heart failure, and 15 with cyanotic heart disease (CCHD) before (B) and a year after (A) surgical or catheter interv...

Background: Cholesteatoma, a serious suppurative middle ear condition, has an increased prevalence in Turner syndrome (TS).Aims: To estimate its incidence in our TS population; identify risk factors; highlight distinctive operative findings; and suggest strategies for earlier detection.Methods: Retrospective casenote review for patients attending a TS clinic to identify those with cholesteatoma; each age-matched with three unaffect...

Background: Patient information leaflets are widely used by clinicians to reinforce and supplement information discussed during a consultation. This helps empower the patient and their family by enabling them to gain a greater understanding about their condition, investigation and/or treatment. However, despite the global increase in digital activity leaflets are still being disseminated in printed form. Accessing them online may be the more preferable option and would also mo...

Serum CA 19-9 (carbohydrate antigen 19-9) is a tumor marker of monosialoganglioside structure. Its level is frequently measured for screening purposes in daily practice by physicians, while its main use is in the study of tumor recurrence and follow-up of recurrences. Although significant elevations in CA 19-9 levels cause suspicion of malignancy, an underlying malignant disease may not always be determined and benign pathologies may also be seen. A 45-year-old female patient ...

Thyrotoxic periodic paralysis (TPP) is due to a fall in potassium levels and threat life if it effects respiratory muscles. Men are more effected than women, and lower extremeties are more prone to involvement. Serum potassium in hyperthroidism is usually normal, but Na+/K+ ATP’ase sensitivity is increased and extracellular potassium rapidly passes to the intracellular space. Beta blockers, small dose potassium replacement and hyperthyroidism treatme...

Introduction: Hyperthyroidism during pregnancy is a rare condition and occurs in 0.1–0.4% of all pregnancies. Graves’ Disease and transient gestational thyrotoxicosis constitute the majority of emerging thyrotoxicosis during pregnancy. Subacute thyroiditis (SAT) may also cause temporary hyperthyroidism.Case report: A thirty-three-year-old, 13-week pregnant patients was admitted with fatigue, pain and swelling in thyroid lodge. Thyroid function ...

Introduction: Adrenocortical carcinomas are rare aggressive tumors. 36 % of patients with ACC have distant metastasis on presentation. Although lung metastasis are commonly seen in metastatic Adrenocortical carcinoma, cannonball pulmonary metastasis which are solid and well circumscribed parenchymal masses of variable size are rare and typically seen in Renal cell carcinoma and also in other cancers such as bone sarcomas. We report a case of functional Adrenocortical cancer wi...