Endocrine Abstracts

Aim: Mitotane (o,p′-DDD) has been used to treat adrenocortical carcinoma (ACC) for several decades. Mitotane is often given in adjuvant setting after surgical resection of ACC and treatment usually lasts 2–3 years to reduce ACC recurrence. The use of mitotane is associated with multiple adverse effects. We herein report a case of marked hypercholesterolemia in a man receiving mitotane as adjuvant chemotherapy for ACC.Case: A 64-year-old man wa...

Transsexuality is characterised by a belief of having been born in a wrong body. Sexual differentiation of genitals take place in the first 2 months of pregnancy. Sexual differentiation of brain takes place in the second half of pregnancy. It is found that there is structural sex differences in the central nucleus of the bed nucleus of the stria terminalis (BSTc). Structural differences were found to be reversed in transsexual people. In humans main mechanism appears to involv...

Objective: Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a very rare congenital anomaly characterised by vaginal agenesis and a spectrum of different genitourinary tract anomalies. Typical form of this syndrome is characterised by congenital absence of the uterus and upper 2/3 vagina with normal ovaries and fallopian tubes and atypical form of the syndrome is associated with anomalies of the ovaries and fallopian tubes and renal anomalies.Case r...

Introduction: Langerhans cell histiocytosis (LHH) is an idiopathic, clonal, pleomorphic, neoplastic disorder characterized by the presence of atypical histiocytic cells which are locally or commonly seen in bone, lung, hypothalamus, liver, lymph nodes, mucocutaneous tissues with damaging them.Case: 58 year-old male patient applied to our clinic due to fatigue. On his physical examination, lymphadenopathy and hepatosplenomegaly were absent. In his history...

Thyroid cancer is the most common malignant tumor of the human endocrine system. Recently, its incidence has increased significantly. Anaplastic cancer constitutes 2–4% of thyroid cancers and remains aggressive. The life expectancy is 2–6 months. It is often beyond the surgical margin. External radiation therapy or chemotherapy are the treatment options. Therefore, new therapeutic approaches are needed. Peroxisome proliferator-activated receptor (PPAR) gamma is a DNA...

Aim: The Swyer syndrome belongs to a group of pure gonadal dysgenesis. Karyotype is 46,XY. Aberrations of chromosome Y or SRY gene mutation is present in 15–30% of cases. These patients have high gonadotropin levels and are classified as having hypergonadotropic hypogonadism. The Swyer syndrome in the female requires close followup because of the high risk of neoplastic transformation in the dysgenetic gonads. Herein we report a case of Swyer syndrome with gonadoblastoma ...

Introduction: Insulinoma is a rare neuroendocrine tumor. 90% of insulinoma is solitaire and benign, and 10% is malignant. Although seen at any age, it is most commonly noticed in 4th and 6th decades.Case: A 78-year-old man was referred to a neurology clinic upon a sudden faint, disability to remember and meaningless behavior, and diagnosed with epilepsy in 2008. In 2012, he had a hypoglycemia attack (blood glucose 30 mg/dl) and was referred to Ege Univer...

Introduction: Pseudohypoparathyroidism (PHP) is a rare disease characterized by end-organ resistance to parathyroid hormone, causing hypocalcemia with hyperphosphatemia and elevated parathormone (PTH) levels. A prevalence of 3.4/million has been reported. Here, we present a rare case with PHP.Case report: A 28-year-old male patient with spasms in hands and feet was evaluated in the outpatient department of neurology and was referred to endocrinology clin...

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is also known as autoimmune polyendocrine syndrome type 1 (APS-1). We present a case of autoimmune polyendocrine syndrome type 1 with hypercalcaemia of adrenal insufficiency during the calcium treatment because of hypoparathyroidism.Case: A 20-year-old female patient was diagnosed with APS-1 in 2004. She applied to ER with the complaints of nausea and vomiting. Her laboratory finding...

Introduction: Dyskeratosis congenita is a rare multisystemic disease characterised with atrophy on skin, pigmentation, nail dystrophy, leukoplakia in mucous membrane, bone marrow failure, and tendency to malignancy. We present a rare case of dyskeratosis congenita associated with hypothyroidism and hypogonadism.Case: A 30-year-old male patient was referred to Endocrinology Department with the findings of micropenis and atrophic testicles. His parents had...