Endocrine Abstracts

Autoimmune polyglandular syndrome type 2 (APS-2) is cluster of autoimmune diseases characterized by autoimmune adrenal insufficiency and thyroid disease (Schmidt’ syndrome) with or without type 1 diabetes (carpenter syndrome). This autoimmune condition may be associated with hypogonadism, hypopituitarism, immunoglobulin A deficiency, myasthenia gravis, celiac disease, and vitiligo. Co-existence of myasthenia gravis and APS 2 is extremely rare and their common etiology has...

Introduction: First described in 1944, the condition is a rare pediatric genetic disease estimated to affect 1 in 48 000 individuals. Kallmann syndrome is an uncommon hereditary disorder and is among the most frequent cause of isolated congenital hypogonadotropic hypogonadism (CHH). In its classical form, it is characterized by hypogonadotropic hypogonadism and anosmia/hyposmia. Absent endogenous GnRH-induced LH pulsations occur due to failure of neuronal migr...

17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with gonads (testes) intact. Their bodies, however, do not produce enough testosterone. Testosterone has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the male phenotype of external genitalia before birth.Case report: 12 years old, re...

A rare skeletal dysplasia-Progressive Pseudorheumatoid dysplasia—close mimicker of juvenile idiopathic arthritisIntroduction: Progressive pseudorheumatoid dysplasia (PPD) or spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare autosomal recessive arthropathy of childhood involving the entire skeleton. Here we report first genetically proven case of PPRD from the country. Often mistaken as juvenile rheumatoid arthritis,...

Background and Purpose: AHC (X-linked adrenal hypoplasia congenita) is a rare cause of adrenal insufficiency due to mutations in NROB1 gene. It traditionally causes hypogonadotropic hypogonadism. Rare cases of central precocious puberty due to NROB1 mutation has been reported so far. We present two interesting cases of NROB1 mutation from a same family with different presentations. This is first case report of NROB1 mutation from Pakistan. Case Report: I...

Background: Steroid cell tumour of ovaries comes under sex cord stromal tumour that accounts less than 0.1% of all ovarian tumour. Majority are benign in childhood age group. It may produce steroids and testosterone resulting in virilisation and Cushing’s syndrome. Histology remains the gold standard for diagnosis of NOS. The gross appearance of NOS generally is well circumscribed, solid and noncalcifed with a lobulated appearance Till date only 10 cases has been reported...

Introduction: 46XY gonadal dysgenesis is one of the important cause of DSD with varied clinical presentation Genetic mutations like SRY, NR5A1, SOX9, DHX37 are common mutations that can cause gonadal dysgenesis. Genetic testing for reaching final diagnosis in 46 XY DSD is increasingly playing a crucial role in the management plan.Case: A 10-month-old patient presented in our DSD clinic with complaint of atypical genitali...

Background: Precocious puberty is thought to occur in 1 in 5000–10 000 people. Precocious puberty is a neglected topic in Pakistan, and little research has been done so far to examine its aetiology in our population, despite its importance and relative prevalence. Objective: To find the frequency of precocious puberty in children and to compare the clinical and laboratory parameters of central and peripheral precocious puberty. M...

Background: C Treatment in all forms of CAH includes lifelong replacement of steroids. Steroids have an impact on bone health in multiple ways and are known to cause osteoporosis when given in high doses or for a longer duration. Objective: To evaluate bone mineral density (BMD), using dual-energy X-ray absorptiometry (DEXA) scan in children with CAH taking long-term steroids presenting in the pediatric endocrinology war...

Peripheral precocious puberty (PPP) in males is a rare condition characterized by the premature activation of the hypothalamic–pituitary–gonadal axis, resulting in the early onset of secondary sexual characteristics. We present the case of a one-year-old boy from Pakistan who exhibited PPP along with a left hip region mass.The patient’s initial workup revealed remarkably elevated levels of beta-human chorionic gonadotropin (Bhcg) and serum alphafetoprotein (AFP), indicating po...