Browsing by Autor "Marco Antonio Calla Ayala"

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FRI509 A Girl With Trisomy 21 Presents With Van Wyk-Grumbach Syndrome
(Endocrine Society, 2023) Juan Pablo Hayes Dorado; Marco Antonio Calla Ayala; Andrea Colque Arias; Karem Lanuza Gaite; Marco Rossell Lopez; Daniela Frias Eid
Abstract Disclosure: J. Hayes dorado: None. M. Calla Ayala: None. A. Colque Arias: None. K. Lanuza Gaite: None. M. Rossell Lopez: None. D. Frias Eid: None. Van Wyc-Grumbach syndrome (VWGS) is a rare presentation of long standing prepubertal hypothyroidism characterized by bilateral multicystic enlarged ovaries, vaginal bleeding and delayed bone age. It appeared that high TSH could produce FSH and LH like activity leading to multiple ovarian cysts. A 7-year-old girl with trisomy 21, presented with vaginal bleeding for 2 days prior to admission. Physical exam revealed bradycardia (68 bbm), apathy, sluggishness, as well as dry skin and eyelid oedema. She had no breast development nor pubic hair.Causes of vaginal bleeding such as trauma, possible abuse, foreign body insertion and urethral prolapse were excluded. There was no purpura or bleeding from other sites.The abdominal sonogram revealed bilateral ovarian cystic masses (V:17.29 cm3 and 16.48 cm3, right and left, respectively). Bone age was delayed almost 3 years behind her chronological age. Laboratory tests revealed TSH 860 μIU/mL, T4 0.71 μg/dL, FSH 8.12 mIU/mL, LH &lt; 0.1 mIU/mL, estradiol 193 pg/mL, thyroid peroxidase Abs 184 IU/mL, thyroglobulin Abs 212 IU/mL, Β-hCG &lt; 0.1mU/mL, confirming severe hypothyroidism. The girl was diagnosed with VWGS due to unrecognized chronic lymphocytic thyroiditis and LT4 treatment (75mug/OD) was initiated. The patient responded with complete remission of symptoms and regression of the ovarian cysts one month after initiation of treatment. It is very important to think of VWGS and investigate for thyroid status during the evaluation of ovarian cysts or isolated premature menarche. Early recognition can eliminate unnecessary surgery to remove ovarian cysts, as appropriate treatment with levothyroxine leads to complete remission of symptoms. Even when the diagnosis of VWGS is confirmed, practitioners must be watchful to consider surgical intervention in the presence of uncontrolled vaginal bleeding, hemodynamic instability, or failure of regression of ovarian cysts with exogenous thyroid hormone replacement. Presentation: Friday, June 16, 2023
FRI513 Pathological Bone Fracture In An Adolescent With Graves’ Disease
(Endocrine Society, 2023) Juan Pablo Hayes Dorado; Marco Antonio Calla Ayala; Daniela Vargas Sejas; Emilene Coca Tapia; Gerben Justiniano Vargas; F León Arze
Abstract Disclosure: J. Hayes dorado: None. M. Calla Ayala: None. D. Vargas Sejas: None. E. Coca Tapia: None. G. Justiniano Vargas: None. F. Leon Arze: None. Graves’ disease is the most common pediatric cause of hyperthyroidism. Although hyperthyroidism has been reported to cause a decrease in bone mineral density (BMD), its association with bone fractures is rare. A 12-year-old female patient presented to emergency with left arm pain that started after collision with an electricity pole. Her medical history included fractured right femur one year previously. Her heart rate 128 beats/min, blood pressure 120/70 mm Hg, weight 44 kg, height 156 cm (75th percentile) and BMI 18 kg/m2(50th percentile). Family history was unremarkable. He had prominent thyromegaly with diffuse enlargement and soft consistency on palpation. X-ray revealed a fracture of left humerus. Demineralization of bone was detected. Blood Tests: calcium 8.9 mg/dL (8.5-10.5); phosphate 4.36 mg/dL (3.7-5.6); alkaline phosphatase 239 U/L (42-362); PTH 23 pg/mL (12-88); 25-OHD 22.8 ng/mL (20-80); TSH &lt;0.01 μIU/mL (0.38-5.33); fT3 29 pg/mL (2.6-4.37); and fT4 5.13 ng/dL (0.61-1.2). Auto-antibodies were positive: thyroid peroxidase Abs 42 IU/mL (0-9), thyroglobulin Abs 21 IU/mL (0-4) and TSH Receptor Abs 7.33 IU/L (0-0.1). Complete blood count, liver, kidney function tests were normal. Thyroid ultrasonography showed a significant increase in thyroid gland volume and vascularization. A diagnosis of Graves’ disease was confirmed. Methimazole, propranolol, calcium and vitamin D therapies were started. Pre-treatment bone densitometry showed significantly low BMD: lumbar BMD (L1-L4) was 0.701 g/cm2 (Z-score - 2) and femoral BMD was 0.639 g/cm2 (Z-score -2). Euthyroidism was achieved after ten weeks of treatment and clinical signs of hyperthyroidism had improved. At six months follow up there were no clinical signs of hyperthyroidism and the patient remained euthyroid. Bone densitometry investigation one year after diagnosis showed marked improvement: lumbar BMD (L1-L4) was 0.898 g/cm2 (Z-score -0.5) and femoral BMD was 0.799 g/cm2 (Z-score -0.4). Untreated adolescents with Graves’ disease may present with fractures. It highlights the importance of considering hyperthyroidism as a possible diagnosis among the differential diagnoses of pathological bone fractures. Presentation: Friday, June 16, 2023
SAT287 Clinical And Biochemical Characteristics In Female Adolescents Diagnosed With Non-classic Congenital Adrenal Hyperplasia (NCCAH)
(Endocrine Society, 2023) Juan Pablo Hayes Dorado; Marco Antonio Calla Ayala; Rodrigo Zapata Lafuente; Cristian Ramos Bustencio; Claudia Gorena Montalvo; Ivana Chiri Porcel
Abstract Disclosure: J. Hayes dorado: None. M. Calla Ayala: None. R. Zapata Lafuente: None. C. Ramos Bustencio: None. C. Gorena Montalvo: None. I. Chiri Porcel: None. The aim of this study was to evaluate the clinical and biochemical characteristics in female adolescents diagnosed with NCCAH in comparison to female age-matched healthy controls. A total of 39 female adolescents, aged 10-15 years, were enrolled in this study, including 24 patients with NCCAH (mean age 12.9±1.4 years) and 15 healthy controls (mean age 13.2±1.1 years). Data was collected on anthropometry, clinical features of hyperandrogenism (hirsutism, acne, alopecia) and menstrual irregularities, and ovarian ultrasound was performed. Hormonal and metabolic markers were assessed. Hirsutism was present in 91.7% of the NCCAH females and 46.7% of the controls (p&lt;0.001), while acne and alopecia were defined in 83.3% and 66.7% of the NCCAH patients, respectively, compared to 33.3% and 26.7% of the healthy females (p acne &lt;0.0001 and p alopecia =0.003). No significant difference was found in the rate of menstrual disorders between the groups. The BMI and waist circumference did not differ between NCCAH females and healthy controls. No significant difference was found in the parameters of lipid and glucose metabolism between the groups. Testosterone and basal levels of 17 OH Progesterone were significantly higher in NCCAH females (p&lt;0.01). Polycystic ovaries were detected by ultrasound in 8.3% of the NCCAH and 6.7% of the controls, without significant difference between the groups. NCCAH in female adolescents is characterized by clinical and biochemical hyperandrogenism. No significant difference was found in the rate of menstrual disorders, the BMI, waist circumference and the parameters of lipid and glucose metabolism between the groups. Presentation: Saturday, June 17, 2023