Searchable abstracts of presentations at key conferences in endocrinology

ea0095p9 | Adrenal 1 | BSPED2023

First case recognized as autoimmune polyglandular syndrome type 2 with double seronegative myasthenia gravis – A case report-from Pakistan

Riaz Maira , Rani Versha , Ibrahim Mohsina , Khoso Zubair

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...

ea0095p50 | Gonadal, DSD and Reproduction 1 | BSPED2023

A rare disease of Kallmann syndrome: First case report from Pakistan

Riaz Maira , Noor Noshaba , Rani Versha , Ibrahim Mohsina

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...

ea0078p35 | Gonadal, DSD and Reproduction | BSPED2021

Two brothers with rare NROB1 mutation presenting with dichotomus pubertal presentations

Versha Rani Rai Dr , Noor Ibrahim Mohsina , Raza Jamal , Laghari Taj Muhammad , Khoso Zubair , Riaz Maira

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...

ea0095p151 | Pituitary and Growth 2 | BSPED2023

Evaluation of etiology and clinical feature of precocious puberty among children presenting in a pediatric endocrinology department in a tertiary care hospital

Roshia Parveen , Versha Rani Rai , Mohsina Noor Ibrahim , Maira Riaz , Yasir Naqi Khan , Heeranand Rathore

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...

ea0095p6 | Adrenal 1 | BSPED2023

Bone mineral density in children with congenital adrenal hyperplasia presenting to tertiary care hospital from LMIC

Karishma Rahak , Mohsina Noor Ibrahim , Versha Rani Rai , Maira Riaz , Roshia Parveen , Heeranand Rathore

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...

ea0095p128 | Gonadal, DSD and Reproduction 2 | BSPED2023

Challenging clinical scenario: Germ cell tumor masquerading as peripheral precocious puberty in a one-year-old boy from Pakistan

Versha Rani Rai , Mohsina Noor Ibrahim , Sanagar Ali , Maira Riaz , Roshia Parveen , Mehrunnisa Yasir

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...