hrp0092p1-430 | Thyroid (2) | ESPE2019

Clinical Characteristics and Long-Term Follow-Up of Patients with Congenital Hypothyroidism (CH) due to Thyroid Peroxidase (TPO) Gene Mutations

Tobias Leraz , Almagor Tal , Admoni Osnat , Khayat Morad , Elias-Assad Gadhir , Almashanu Shlomo , Tenenbaum-Rakover Yardena

Backround: Hereditary inborn errors of thyroid hormone synthesis account for 10-15% of congenital hypothyroidism (CH). Thyroid peroxidase (TPO) deficiency is the most common enzymatic defect with a frequency of 50-90%.Aim: In the present study our objective was to characterize the long-term clinical outcome in patients with TPO deficiency and to assess the association between development of multinodular goiter (M...

hrp0089p2-p404 | Thyroid P2 | ESPE2018

Hearing Loss Among Patients with Congenital Hypothyroidism

Almagor Tal , Nachtigal Dan , Sharoni Zohara , Elias-Assad Ghadir , Hess Ora , Havazelet Gilad , Tenenbaum-Rakover Yardena

Background: A high rate of hearing impairment has been reported in patients with congenital hypothyroidism (CH). However, this association has only been explored in a few studies with inconclusive findings.Objectives: To assess the prevalence of hearing impairment among patients with CH and determine whether hearing impairment is related to delay in supplemental therapy, etiology of CH or other parameters.Methods: Audiometry was un...

hrp0092p2-146 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Severe Neonatal Hyperparathyroidism Due to a Novel Homozygous Mutation of the Calcium-Sensing Receptor (CaSR)

hacohen solovitz amir , Tenenbaum-Rakover Yardena , Spiegel Ronen , Weinberger Jeffrey , Gillis David , Goor Zamir Gershon , Levine Michael A. , Almagor Tal

Homozygous loss-of-function mutations of the calcium-sensing receptor gene (CaSR) are associated with neonatal severe hyperparathyroidism (NSHPT), a life-threatening condition with a challenging treatment approach.We report a 7-day-old-female infant who was admitted to our Pediatric Department due to poor sucking. On examination she was lethargic and hypotonic. Laboratory evaluation revealed extreme hypercalcemia of 23.54 mg/dL (N: 7.6–10.4...

hrp0092p2-244 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

The Evolving Role of Whole Exome Sequencing in the Diagnosis of Disorders of Sex Development (DSD)

Tenenbaum-Rakover Yardena , Admoni Osnat , Elias-Assad Ghadir , London Shira , Noufi- Barhoum Marie , Ludar Hana , Almagor Tal , Bertalan Rita , Bashamboo Anu , McElreavey Ken

Background: Disorders of sex development (DSD) are classified as a congenital discrepancy between external genitalia, and gonadal and chromosomal sex. Despite extensive laboratory and imaging investigations, the etiology of DSD is unknown in more than 50% of patients. We aimed to evaluate the etiology of DSD using whole exome sequencing (WES) technique.Methods: Eleven patients with DSD (ten with 46,XY and one with 46...