Multisystem Endocrine Disorders

First description of a child with a biallellic loss-of-function variant in the sulfate transporter SLC13A1

hrp0095p1-138 | Multisystem Endocrine Disorders

Long-term Growth and Endocrine Complications of Bone Marrow Transplantation in Children and Adolescents with Beta-Thalassemia Major: Comparison with Conventional treatment

hrp0095p1-139 | Multisystem Endocrine Disorders

“Cushing’s syndrome in a girl with Carney Complex: a case report”

hrp0095p1-140 | Multisystem Endocrine Disorders

Prevalence of Endocrinopathies in Sickle cell Disease Patients on Conventional Therapy: Review of literature in the past 25 years

hrp0095p1-141 | Multisystem Endocrine Disorders

A Case with Primrose Syndrome and What He Taught

hrp0095p1-142 | Multisystem Endocrine Disorders

Two causes of short stature and delayed puberty in one patient: craniopharyngioma and celiac disease. A case report.

hrp0095p1-333 | Multisystem Endocrine Disorders

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome

hrp0095p1-334 | Multisystem Endocrine Disorders

Multi-continent comparison of the prevalence of short stature and undernutrition in children and adolescents with homozygous sickle cell disease: Africa, USA, Europe, and Middle East area

hrp0095p1-335 | Multisystem Endocrine Disorders

Early endocrinological deficiencies can anticipate the diagnosis of mitochondrial diseases: phenotype evolution of a rare MT-TG gene variant

hrp0095p1-336 | Multisystem Endocrine Disorders

Prevalence of Short Stature and Endocrinopathy in β-thalassemia Major Patients on Conventional Therapy in the Mediterranean and the Middle East countries

hrp0095p1-337 | Multisystem Endocrine Disorders

Alopecia totalis at the onset of polyglandular syndrome type 1

hrp0095p1-338 | Multisystem Endocrine Disorders

Age of Estrogen Therapy Affects on Final Height in Girls with Chronic Kidney Disease and Short Stature

hrp0095p1-339 | Multisystem Endocrine Disorders

Treatment-resistant hypokalemia and arterial hypertension: a prismatic case of low renin childhood hypertension

hrp0095p1-340 | Multisystem Endocrine Disorders

A novel SPINT2 missense mutation（c.386A>G;p.Y129C）causes syndromic congenital sodium loss diarrhea: The first case report in China

hrp0095p1-534 | Multisystem Endocrine Disorders

Successful treatment of neonatal Cushing in a paediatric patient with McCune Albright Syndrome (MAS) by using metyrapone suppositories

hrp0095p1-535 | Multisystem Endocrine Disorders

Case Report: HAX1 Mutation/Kostmann Syndrome: A close cooperation between pediatric endocrinologists and hem-oncologists is crucial!

hrp0095p1-536 | Multisystem Endocrine Disorders

A case of septo-optic dysplasia and congenital hypothyroidism in a patient affected by Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome

hrp0095p1-537 | Multisystem Endocrine Disorders

A case report of Pituitary Stalk Interruption Syndrome caused by novel compound heterozygous mutations in the KATNIP gene

hrp0095p1-538 | Multisystem Endocrine Disorders

Capillary Hyperglycemia in Infants - A manifestation of endocrinological urgency, or not.

hrp0095p1-539 | Multisystem Endocrine Disorders

Rett Syndrome Patients: Do They need Pediatric Endocrinologist’s care?

hrp0095p1-540 | Multisystem Endocrine Disorders

Screening for hypoparathyroidism in beta thalassemia major: About a series from Constantine

hrp0095p1-541 | Multisystem Endocrine Disorders

ESPE Abstracts

60th Annual ESPE (ESPE 2022)

Poster Category 1

Hypoaldosteronism without hypocortisolism - an unusual presentation of APECED syndrome

Time Taken to Reach a Diagnosis In Children With XY DSD In Expert Endocrine Centres In Europe

First description of a child with a biallellic loss-of-function variant in the sulfate transporter SLC13A1

Long-term Growth and Endocrine Complications of Bone Marrow Transplantation in Children and Adolescents with Beta-Thalassemia Major: Comparison with Conventional treatment

“Cushing’s syndrome in a girl with Carney Complex: a case report”

Prevalence of Endocrinopathies in Sickle cell Disease Patients on Conventional Therapy: Review of literature in the past 25 years

A Case with Primrose Syndrome and What He Taught

Two causes of short stature and delayed puberty in one patient: craniopharyngioma and celiac disease. A case report.

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome

Multi-continent comparison of the prevalence of short stature and undernutrition in children and adolescents with homozygous sickle cell disease: Africa, USA, Europe, and Middle East area

Early endocrinological deficiencies can anticipate the diagnosis of mitochondrial diseases: phenotype evolution of a rare MT-TG gene variant

Prevalence of Short Stature and Endocrinopathy in β-thalassemia Major Patients on Conventional Therapy in the Mediterranean and the Middle East countries

Alopecia totalis at the onset of polyglandular syndrome type 1

Age of Estrogen Therapy Affects on Final Height in Girls with Chronic Kidney Disease and Short Stature

Treatment-resistant hypokalemia and arterial hypertension: a prismatic case of low renin childhood hypertension

A novel SPINT2 missense mutation（c.386A>G;p.Y129C）causes syndromic congenital sodium loss diarrhea: The first case report in China

Successful treatment of neonatal Cushing in a paediatric patient with McCune Albright Syndrome (MAS) by using metyrapone suppositories

Case Report: HAX1 Mutation/Kostmann Syndrome: A close cooperation between pediatric endocrinologists and hem-oncologists is crucial!

A case of septo-optic dysplasia and congenital hypothyroidism in a patient affected by Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome

A case report of Pituitary Stalk Interruption Syndrome caused by novel compound heterozygous mutations in the KATNIP gene

Capillary Hyperglycemia in Infants - A manifestation of endocrinological urgency, or not.

Rett Syndrome Patients: Do They need Pediatric Endocrinologist’s care?

Screening for hypoparathyroidism in beta thalassemia major: About a series from Constantine

Severe Systemic Pseudohypoaldosteronism Type 1: 10 years of evolution

BiosciAbstracts