hrp0086p2-p877 | Syndromes: Mechanisms and Management P2 | ESPE2016

Pituitary Gigantism and Central Precocious Puberty Presenting with Prognathism in a Pediatric Patient

Minutti Carla , Idrovo Alexandra

Case Report: A 13-year old male presented to a dental office for evaluation of prognathism. After evaluation, his dentist referred him to pediatric endocrinology. He had no significant past medical history. He denied any signs or symptoms associated with any hormonal deficit or excess, as well as headaches or visual disturbances. Denied excessive growth of hands or feet. Parents reported that he had been having pubic and axillary hair, mild acne, and significant growth for the...

hrp0082p3-d3-939 | Puberty and Neuroendocrinology (1) | ESPE2014

Precocious Puberty due to Duplication of the Pituitary Gland

Minutti Carla , Goldstein Deborah

Case Report: A 7 years 5-month-old female presented in our clinic for evaluation of early pubertal development. Parents reported telarche occurring at age 6 years and menarche at age 7 years and 3 months. No history of development of pubic or axillary hair, adult body odor, or acne. Mother had menarche at 13 years of age. Physical examination revealed a height of 138 cm (>95th centile). Mid-parental height was calculated at 157 cm (20th centile). She was found to be Tanner...

hrp0084p3-1177 | Thyroid | ESPE2015

The Correlation between TSH Levels and BMI Percentiles in Hypothyroid Children Who are Chemically Euthyroid on Levothyroxine Treatment

Shaoba Asma , Minutti Carla

Background: Prior research has shown a correlation between TSH levels and BMI in euthyroid subjects. Whether this relation can be applied to hypothyroid chemically euthyroid children has yet to be determined.Objective and hypotheses: To determine if there is a correlation between TSH levels and BMI percentiles in hypothyroid children who are chemically euthyroid on levothyroxine.Method: Retrospective chart review of patients from R...

hrp0097p2-238 | Diabetes and Insulin | ESPE2023

CGK Gene nucleotide variant of uncertain clinical significance (Exon 4/10. c397G>A. p.Asp133Asn) in a pediatric patient with hyperglycemia, elevated HgA1c and negative anti-islet cell antibodies

Minutti Carla , Mora Guido

Maturity onset diabetes of the young (MODY) is a group of inherited disorders with a varying degree of severity, caused by variants in one of several genes (most common genes are: HNF1A, CGK, HNF4A, HNF1B), The majority of cases have impaired insulin secretion. Patients tend to present with hyperglycemia prior to age 25 years, but can present later in life. There is usually family history of diabetes. MODY accounts for 1-3% of all cases of diabetes. The GCK gene has been assoc...

hrp0086p2-p405 | Gonads & DSD P2 | ESPE2016

Maternal Ovarian Luteoma Causing Complete Virilization of a Female Fetus

Davis Vanessa , Minutti Carla Z

Background: Maternal ovarian luteoma is a rare condition that may cause virilization of female fetuses.Case presentation: We present the case of a baby born at 29 weeks gestational age to a 20 yo mother with history of two spontaneous abortions and no live births. Physical exam after birth revealed ambiguous genitalia, with a stretched phallic length of 1 cm with hypospadias on the ventral surface of phallus and complete fusion of rugated labioscrotal fo...

hrp0092p3-251 | Thyroid | ESPE2019

A Case of Graves Disease with Negative Thyrotropin Stimulating Antibodies in a Pediatric Patient with Type 1 Diabetes

Burdea Liliana , Robinson Sylvia , Minutti Carla

Background: Graves disease (GD) is an autoimmune condition caused by direct stimulation of the thyroid epithelial cells by thyrotropin (TSH) receptor antibodies (TRAb). The action of TRAb can be stimulating, blocking or neutral. Antibodies with agonist action are also called thyroid stimulating immunoglobulins (TSI). The diagnosis of GD is typically confirmed with TSI titer which is positive in >90% of patients. In patients that have negative TSI, high...

hrp0095p2-307 | Late Breaking | ESPE2022

Hypoglycemia as a result of skewed thiopurine metabolism in two pediatric patients

Seong Clara , Giordano Lisa , Seyboth Brian , Minutti Carla

Introduction: 6 Mercaptopurine (6MP) is a cornerstone of maintenance therapy in pediatric acute lymphoblastic leukemia (ALL). Fasting hypoglycemia is a rare side effect of 6MP therapy that has been observed in children being treated for ALL. We present two pediatric patients who developed symptomatic, fasting hypoglycemia during maintenance therapy.Case Description: A 7-year-old male with standard risk B ALL receiving ma...

hrp0092p2-62 | Diabetes and Insulin | ESPE2019

The Effect of Carbohydrate Recognition and Counting Ability on Glycemic Control in Pediatric Patients with Type 1 Diabetes

Minutti Carla , Mullen Mary , Bindiganavle Aparna , Parish Anthony

Many factors contribute to the glycemic control in pediatric patients with type 1 diabetes mellitus (T1DM). The purpose of this IRB approved study was to determine if there was a significant correlation between the ability of pediatric patients with TiDM to accurately recognize and count carbohydrates and their hemoglobin A1C (HgbA1C). T1DM patients aged 12-17 years completed the Koontz PedCarbQuiz (PCQ) . Demographic and clinical data was extracted from the electronic health ...

hrp0086p2-p973 | Thyroid P2 | ESPE2016

A Case of Neonatal Graves in a Premature Infant with Negative Thyroid Stimulating Immunoglobulins (TSI)

Samuel Angela , Davis Vanessa , Minutti Carla , Mantis Stelios

Background: Neonatal hyperthyroidism is almost always transient and related to the passage of maternal thyroid stimulating immunoglobulins (TSI). Positive TSI levels in a neonate is often diagnostic of neonatal Graves disease. The manifestation of symptoms has not been well characterized in premature infants.Clinical Case: A female infant was delivered at 27×4/7 weeks gestational age, with a birth weight of 827 g. Her mother was diagnosed with Grave...

hrp0084p3-687 | Diabetes | ESPE2015

Correlation of Vitamin D Levels with Glycaemic Control, Total Daily Insulin Dose, BMI, and Ethnicity in Paediatric Patients with Type 1 Diabetes Mellitus

Bianco Monica , Durazo Ramon , Durazo-Arvizu Ramon , Minutti Carla

Background: Type 1 diabetes mellitus (T1DM) is an autoimmune and inflammatory process and vitamin D (VD) is thought to reduce inflammation and prevent autoimmune destruction. Studies have shown that VD has an effect on insulin secretion and sensitivity in rats. And it has been shown that adult T2DM with normal levels of VD have decreased insulin requirements. Two prior studies in Turkey looked at the relationship between VD levels and daily insulin requirement in paediatric pa...