hrp0094p1-47 | Sex Endocrinology and Gonads A | ESPE2021

STK11 gene variant (Peutz-Jeghers Syndrome) presenting with unilateral pre-pubertal gynaecomastia and macro-orchidism without muco-cutaneous pigmentation or gastrointestinal symptoms.

Shaunak Meera , Side Lucy , Afzal Nadeem , Davies Justin ,

Introduction: We report two siblings presenting with pre-pubertal gynaecomastia and macro-orchidism, who were later diagnosed with Peutz-Jeghers Syndrome (PJS) secondary to a STK11 gene variant. Importantly neither child fulfilled the clinical criteria for diagnosis at presentation, with no muco-cutaneous pigmentation nor gastrointestinal symptoms.Case report: Sibling 1 was referred to Paediatric Endocrinology aged 4 years with ...

hrp0084p3-1202 | Thyroid | ESPE2015

A Curious Case of Thyrotoxic Crisis and Lower Extremity Weakness in a 15 year-Old Female with Graves’ Disease

Dumin Magdalena , Afzal Khalid , Macmillan Carol , Koren Dorit

Background: Thyrotoxic crisis is a rare, emergent complication of paediatric hyperthyroidism. A rare neurological manifestation of thyrotoxicosis is thyroid myopathy.Objective and hypotheses: We report the case of a female teenager who presented to the Emergency Department with thyrotoxic crisis and lower extremity weakness. Our objective is to discuss the course of thyrotoxic crisis and review potential rare neurological manifestations of thyrotoxicosis...

hrp0094p2-39 | Adrenals and HPA Axis | ESPE2021

Clinical spectrum of congenital adrenal hyperplasia due to 3 beta hydroxysteroid dehydrogenase deficiency; A case series

Shaheen Tahir , Aftab Sommayya , Nadeem Muhammad , Saeed Anjum , Arshad Huma ,

Background: In adrenal gland 3β-HSD2 catalyses the conversion of Δ5 to Δ4 steroids (i.e., pregnenolone to progesterone,17 α-hydroxypregnenolone to 17-OHP and DHEA to androstenedione). Defect in this enzyme can affect glucocorticoid, mineralocorticoids and sex steroid synthesis but the clinical and biochemical profile can be very complicating and confusing due to conversion of intermediate steroids to more ac...

hrp0089p3-p323 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Novel Mutation in Two Related 46, XY Phenotypic Females with 17β-Hydroxysteroid Dehydrogenase 3 Deficiency

German Alina , Tiosano Dov , Chertin Boris , Nadeem Sabea , Tenenbaum-Rakover Yardena

Introduction: Deficiency of 17β-hydroxysteroid dehydrogenase 3 (17β-HSD3) enzyme encoded by HSD17B3 is a rare cause of disorders of sex development (DSD). The phenotype associated with 17β-HSD3 deficiency in 46, XY individuals is variable, ranging from predominantly male external genitalia with micropenis and hypospadias to completely female external genitalia. The diagnosis and management of this enzymatic defect is very challenging.<p class="abste...

hrp0094p1-17 | Bone A | ESPE2021

Clinical Spectrum of Hypomagnesemia type 1 (HOMG1) due to Novel TRPM6 mutations

Aftab Sommayya , Anjum Muhammad Nadeem , Saeed Anjum , Shaheen Tahir , Cheema Huma Arshad ,

Background: Hypomagnesemia type 1 (HOMG1) is a rare autosomal recessive condition due to TRPM6 mutation, leading to decrease intestinal magnesium absorption.Objective: To determine the clinical spectrum of HOMG1 due to TRPM6 mutation at a tertiary centre.Case Series: Seven patients (all male) from six different families of hypomagnesemia type 1 due to homozygous TRPM6 mut...

hrp0094p2-45 | Adrenals and HPA Axis | ESPE2021

A Rare Coexistence of two autosomal recessive conditions: Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency (CYP21A2 mutation) with Beta Thalassemia Major

Aslam Aniqa , Aftab Sommayya , Shaheen Tahir , Anjum Muhammad Nadeem , Saeed Anjum , Cheema Huma Arshad ,

Background & Aim: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive condition characterized by inadequate production of cortisol and aldosterone and accumulation of androgens. Beta thalassemia is an autosomal recessive condition caused by defective beta-globin resulting in accumulation of unbound alpha globin chains leading to ineffective erythropoiesis. We are reporting an unusual case of CAH due to 21-hydroxy...

hrp0094p2-63 | Bone, growth plate and mineral metabolism | ESPE2021

Diagnostic Challenges of Vitamin D-Dependent Rickets Type 1A (VDDR1A) caused by CYP27B1 mutation in Resource Limited Countries: A Case Series from Three families

Aftab Sommayya , Shaheen Tahir , Nadeem Anjum Muhammad , Imran Ahmed , Saeed Anjum , Ali Qureshi Abid , Cheema Huma Arshad ,

Background & Aim: Vitamin D-dependent rickets type 1 A (VDDR1A) is an autosomal recessive condition caused by mutation in CYP27B1, which encodes 1 α-hydroxylase enzyme that catalyzes the conversion of 25-hydroxyvitamin D (25OHD) to 1,25-dihydroxyvitamin D (1,25 (OH)2D). We are reporting 4 cases of VDDR1A due to CYP27B1 mutation initially misdiagnosed as vitamin D deficient and hypophosphatemic rickets.<p class="abstext...

hrp0094p2-64 | Bone, growth plate and mineral metabolism | ESPE2021

Lack of Cinacalcet response in Neonatal Severe Hyperparathyroidism (NSHPT) due to homozygous CASR mutation

Haider Ammar , Aftab Sommayya , Chaudhary Shumaila , Qadir Mazhar , Nadeem Anjum Muhammad , Saeed Anjum , Shaheen Tahir , Haroon Farah , Arshad Cheema Huma , Shaukat Mehmood , Ahmad Khawaja , Waheed Irfan ,

Background: Neonatal severe hyperparathyroidism (NSHPT) is a rare disorder caused by inactivating calcium-sensing receptor (CASR) mutation characterized by striking hyperparathyroidism leading to severe hypercalcemia. Heterozygous loss of function in CASR gives rise to a benign variant called familial hypocalciuric hypercalcemia which needs no treatment. We are reporting 3 cases of NSHPT due to inactivating homozygous CASR mutation n...

hrp0092p1-85 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Bone Mineral Density is Normal in Prepubertal Patients with Turner Syndrome when Corrected by Height/age

Dallago Renata Thomazini , Santos Allan Oliveira , Marmo Denise Barbieri , Guerra-Júnior Gil , Morcillo André Moreno , Lemos-Marini Sofia Helena Valente

Introduction: Turner's syndrome (TS) is associated with several manifestations the most frequent being short stature and hypogonadism. Some authors (Nadeem, 2012; Bakalov, 2008) reported that individuals with TS have increased risk of fractures, but the etiology and mechanism of bone fragility have not been yet fully elucidated and may be exacerbated by hormonal factors (Cintron, 2017; Soucek, 2015). Bone densitometry (BD) through the emission of double en...

hrp0086rfc3.3 | Pituitary | ESPE2016

Unraveling the Link between Optic Nerve Hypoplasia and Pituitary Hormone Dysfunction

Alyahaywi Naseem , Dheenshaw Kiera , Aroichane Maryam , Islam Nazrul , Amed Shazhan

Background: Optic nerve hypoplasia (ONH) is a congenital condition with high morbidity. Many children with ONH will develop pituitary hormone dysfunction (PHD), but it is unknown if, or when, this will occur.Objective and hypotheses: Our primary objective was to identify the type, timing and predictors of PHD in children with ONH to help guide the necessity and frequency for pituitary hormone testing.Method: A retrospective chart r...