A 2-month-old infant is brought to your clinic by her parents for a follow-up after abnormal newborn screening results. The baby appears healthy but has a musty body odor. The parents report she becomes irritable after feedings, which include formula and high-protein foods. A review of her newborn records reveals a positive test for phenylketonuria (PKU). The parents are concerned about potential complications of PKU, including its impact on her development and other organ systems, such as the heart. You explain that certain congenital heart defects are associated with PKU and discuss next steps in her management. Which of the following heart defects are common in patients with phenylketonuria?

A 35-year-old woman presented with fatigue, weakness, and weight loss. She had a history of postpartum hemorrhage following her last delivery, requiring blood transfusions. Physical examination revealed pallor, hypotension, and decreased axillary hair. Laboratory tests revealed low levels of thyroid-stimulating hormone (TSH), triiodothyronine (T3), and thyroxine (T4), as well as low levels of cortisol. Additionally, the patient had low levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH), leading to amenorrhea. A diagnosis of Sheehan syndrome is made. Why is a steroid emergency card recommended for this patient?

Mary, a 32-year-old woman, presents to the endocrinology clinic with complaints of chronic fatigue, cold intolerance, weight gain, and irregular menstrual cycles. She also reports difficulty breastfeeding after the birth of her last child three years ago, despite being able to breastfeed her first child without issues. She has noticed thinning of her pubic and axillary hair and decreased libido. Her history reveals that her last delivery was complicated by severe postpartum hemorrhage requiring blood transfusions. She has not received regular medical follow-ups since then. Physical Examination: •Pale skin and thinning of axillary and pubic hair. •Her temperature is 99 °F, heart rate is 62 beats/min, blood pressure is 98/68 mm Hg, respirations are 19 breaths/min, and oxygen saturation is 97% on room air. •No palpable goiter. •Generalized fatigue and lethargy without focal neurological deficits. Diagnostic Workup: 1.Laboratory Results: Test Result Reference TSH 0.1 µg/mL 0.4 – 4.0 µg/mL Free T₄ 0.3 ng/dL 0.9 – 1.7 ng/dL Cortisol 0800h: 2 µg/dL 0800 h: 5-23 µg/dL//1600 h:3-15 µg/dL; 2000 h: <50% of 0800 h Follicle-stimulating hormone 2 mIU/mL Male: 4 - 25 mIU/mL Female: premenopause 4-30 mIU/mL; midcycle peak 10-90 mIU/mL; postmenopause 40 - 250 mIU/mL Luteinizing hormone 1 mIU/mL Male: 6 - 23 mIU/mL Female: follicular phase 5 - 30 mIU/mL midcycle 75 - 150 mIU/ml postmenopausal 30 - 200 mIU/mL Prolactin (hPRL) 6 ng/mL Male: <17 ng/mL Female: <25 ng/mL Sodium (Na⁺) 136 mEq/L 136 - 146 mEq/L ACTH 2 pg/mL 0800 hr: 10-60 pg/mL Estradiol 4 pg/mL 20-200 pg/mL 2.Imaging: MRI of the pituitary shows an empty sella. What is the first hormone deficiency that should be addressed in the treatment of this disorder?

A 35-year-old woman presents for her first prenatal visit at 12 weeks gestation. She has a family history of Down syndrome, with her sister having a child with the condition. Given her advanced maternal age and family history, the patient is offered first-trimester screening for Down syndrome. The patient undergoes a combined screening test, which includes a nuchal translucency ultrasound and maternal serum screening for pregnancy-associated plasma protein-A (PAPP-A), inhibin-A, and free beta-human chorionic gonadotropin (β-hCG). Which combination of maternal serum markers is most commonly associated with Down syndrome (Trisomy 21)?