IMPE Abstracts

Introduction: CAH secondary to 11 beta hydroxylase deficiency accounts for approximately only 5% of cases. Its incidence in general population is estimated as 1 in 250,000 to 1 in 100,000. It is caused by mutation in CYP11B1 gene located on chromosome 8q24, which is responsible for hydroxylation of 11-deoxycortisol to cortisol, so levels of corticotrophin precursors become elevated and shunted towards androgen biosynthesis which leads to ambiguous genitalia in...

Introduction: Menarche praecox is the appearance of endometrial bleeding without other puberty activities. It can be an isolated symptom, as well as a preliminary phase to GnRH-independent premature puberty. Patients do not show accelerated growth or advanced skeletal maturity, and hormonal studies do not show stimulation of the hypothalamic-pituitary-gonadal axis. Its most likely cause is increased sensitivity of the endometrium to estrogen.<p class="abst...

Introduction: Children and adolescents with gender dysphoria are presenting for medical attention at increasing rates. It is important that clinicians understand the specific medical issues that are relevant to this population such as mental health support and hormonal interventions for transgender youth, to ensure optimal outcomes.Objective: To carry out a retrospective observational description analysis of transgender ...

Introduction: Leydig cell hyperplasia (LCH) or tumour are rare in children, representing less than 3% of all testicular tumours and typically presents as gonadotropin-independent precocious puberty due to excess androgen secretion. LCH can be defined as an increase in the size and number of Leydig cells within the testicles. These cells are responsible for the production of testosterone in males.Case: Our patient was a 3...

Introduction: Abnormal uterine bleeding (AUB) as excessive menstrual blood loss, affects the patient's quality of life. The causes of AUB in adolescence are non-structural and within these by far the disovulation secondary to immature hypotalamus-gonadal hypophysis (90%).Clinical Case: 14-year-old. menarche at 10 yo, oligo-amenorrhea. She presents with AUB of 15 days of evolution and functional anemic syndrome. From...

Introduction: NF1 is autosomal dominant disorder that is caused by mutation in NF1 gene, known as “NEUROFIBROMIN” which acts as inhibitor of oncogene RAS. . NF1 has wide variety of association in context with puberty, only few cases are reported in Pakistan with different variety of pubertal growth in association with NF1.Cases: we present two cases of NF1 with pubertal variation that presented to our pediatr...

Objective: To describe the etiologicals characteristics of a group of patients with Sexual Differentiation Disorders (DSD) in follow-up at the pediatric endocrinology service of a tertiary hospital. METHODOLOGY: a cross-sectional study with retrospective analysis of medical records from January/2017 to November/2021, diagnosed with DDS, according to the 2006 Chicago Consensus criteria. RESULTS: 219 patients were evaluate, and their mean age was 12 (&pm; 7.1) y...

Introduction: Ovarian neoplasms are occurring in 2.6/100,000 girls per year. Juvenile Granulosa Tumor (JGCT) belongs to the category of sex cord-stromal tumors. JGCTs usually present in premenarcheal girls and young women with a mean age at diagnosis of 20 years of age and a range between 8-45 years. The tumor produces symptoms derived from the secretion of the estradiol. It has a favorable prognosis and is usually limited to one ovary. In girls, it can cause ...

Introduction: Primary amenorrhea is defined as the absence of menses at age 15 years in the presence of secondary sexual characteristics or at age 13 years if no menses have occurred and there is absence of secondary sexual characteristics Around 14 percent of cases correspond to a physiological delay of puberty and it must be considered a diagnostic of exclusion.Case report: A 15-year-old girl was referred for primary a...

Background: Delayed puberty is defined in girls by the absence of breast development beyond 13 years old and in boys by the absence of testicular enlargement (< 4 ml) beyond 14 years old. In girls, delayed puberty is rare and often organic, and then Turner syndrome should be systematically suspected. In boys, delayed puberty is often constitutional and functional. The aim is to raise awareness of the diagnosis of atypical Turner syndrome.<p class="abste...

Introduction: Gender preference is increasingly more common in our society and in medical general practices. This makes necessary for current and future medical professionals to have up to date, non-biased information so that they can assist transitioning patients with their physical and mental wellbeing.Objective: To explore knowledge and opinions of future medical professionals about transsexuality, and the evolution a...