Endocrine Abstracts

IntroductionPartial gonadal dysgenesis (PGD) is one of the rare 46, XY disorders of sex development (DSD), associated with variable degrees of impaired testicular development and function. Phenotypic appearance is related to the level of functional testicular hormones. Usually PGD is diagnosed in infancy because of significant genital anomaly at birth, however, spontaneous puberty is seen in up to 57% of all 46, XY PGD cases. Bilateral gonadectomy is per...

Introduction: Resistance to thyroid hormone beta (RTHβ) is a rare genetic disorder characterized by impaired responsiveness to thyroid hormone in tissues expressing TRβ. This case report explores the clinical manifestation of RTHβ in a 15-year-old male presenting with acute and intensive chest pain and subsequent diagnostic challenges.Case Report: At midnight, a 15-year-old male reported acute, sharp chest pain, prompting medical attention...

Introduction: Poorly differentiated carcinoma (PDTC) is an aggressive and rare form of thyroid carcinoma that originates from follicular cells and accounts for only 1-3 percent of all thyroid carcinomas diagnosed1. Most of the limited instances of PDTCs have been observed in older individuals. Instances in the pediatric population are exceedingly rare2.Case report: This report refers 17-year-old female, who presented moderate hirsut...

Introduction: Management of patientswith congenital adrenal hyperplasia (CAH) is a challenge to find a right balance of glucocorticoid doses and long-term consequences of overtreatment isassociated with increased risk of cardiometabolic disorders.The aim of our study was to evaluate body mass index (BMI), body composition, blood pressure (BP) and insulin sensitivity in children and youth with CAH in comparison with healthy control subjects.<p class="...

Background: Data on the effects of long term glucocorticoid (GC) treatment on bone mineral density (BMD) in patients with congenital adrenal hyperplasia (CAH) are controversial. Objectives: To evaluate BMD and vitamin D status in adolescents and young adults with CAH in comparison with healthy controls.Methods: 32 patients with classical CAH (13 males; mean of age 26.0±7.1 years (14.0–37.3) were compared to 32 healthy con...

Introduction: Androgen insensitivity syndrome rare X linked disorder that is typically characterized by evidence of feminization of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. Complete androgen insensitivity syndrome (CAIS) usually is recognized only at the teenage age due to primary amenorrhea. Recently, gonadectomy for patients with CAIS are postponed due to a mild risk of malignanc...

Introduction: Congenital multiple pituitary hormone deficiency (MPHD) may result from defects of transcription factors that govern the early pituitary development. The most prevalent are two mutation of PROP1 gene: the c.296delGA and c.150delA.Methods: Seventy-five Lithuanian MPHD patients were tested for PROP1 defects. Perinatal and postnatal data were obtained from medical records. Hormonal investigations, pituitary imaging and GH the...