What is the diagnosis 1?
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A 17-year-old girl presents to the outpatient department with chronic, recurrent oral fungal infections, chronic diarrhea, recurrent abdominal pain, and vomiting since childhood. She has also been experiencing dizziness (especially on erect posture), darkening of the skin and oral cavity, and a low-grade fever for the last 6-8 months. The oral thrush and ulcers have been recurrent since childhood; these are not associated with any antibiotic intake or trauma. Diarrhea has also occurred on and off since childhood, with 4-7 watery-to-semisolid bowel movements per day associated with crampy abdominal pain but not blood or mucus. The bowel movements are not associated with intake of wheat or wheat products; however, they do occur more frequently with the ingestion of meat and meat products. The recurrent abdominal pain is more prominent in the central abdomen, is colicky without radiation, and is not associated with distention. Vomiting has occurred with a variable frequency of approximately 3-5 episodes a day. When she vomits, it is watery, usually associated with meals, and occasionally contains food particles; there have been no instances of blood in the vomitus. She complains of dizziness, especially on standing up from a supine or a sitting position. According to the patient, darkening of the oral mucosa and the skin on her palms (especially in the palm creases), digits, and joints has been progressing for the last 1-2 years, with no history of prolonged exposure to sunlight. Her intermittent fevers over the last 6-8 months have tended to be low-grade, occur at night, and be associated with sweating but not rigors or chills. There is also a history of lethargy, easy fatigability, and palpitations on exertion without chest pain; however, she has no history of loss of consciousness. Her appetite has decreased. The patient has lost about 11 lb (5 kg) over a period of 6 months. She has experienced some hair loss, but no vitiligo has been noted. She also reports a history of nasal obstruction, sneezing, and postnasal drip, but she has not had hemoptysis. There has been no history of joint swelling or pain. Additionally, she has not had any eye pain or decreased vision, but she has had difficulty in performing her routine activities, such as going to the bathroom, because of dizziness and weakness. She generally remains in bed.
The patient also reports dysmenorrhea. She has a history of polymenorrhagia but has had amenorrhea for the last year. She remains anxious and depressed. She has no known allergies, does not smoke, drink alcohol, or use illicit drugs, and she is not currently on any regular medication. She is unmarried, has no sexual contacts, and belongs to a middle-class family. There is no history of blood transfusion. The family history is significant for 2 siblings with similar presentations from early childhood. Her parents are alive and healthy.
On physical examination, she is an alert, thin, pale, dehydrated female. She has a regular pulse of 96 beats/min, a respiratory rate of 14 breaths/min, a temperature of 98.2oF (36.7oC) and a blood pressure of 75/40 mm Hg while supine (she does exhibit a 45 mm Hg systolic pressure with nil diastolic pressure on standing). The patient weighs 87.6 lb (37 kg). No jaundice is noted. Hyperpigmentation of the skin is seen, most prominently in the palmar creases, digits of both upper and lower limbs, lips, and oral mucosa. Angular stomatitis is apparent on inspection of the oral cavity, with a smooth, glossy tongue. White patches consistent with thrush are also seen. Her neck is supple and without lymphadenopathy, her trachea is midline, and she has a normal jugular venous pulse. There are no bruises, petechiae, or evidence of bleeding, cutaneous nodules, or abnormal movements of the limbs. Peripheral edema is absent. The heart examination reveals normal S1 and S2 sounds without murmur. Her chest auscultation is normal. On abdominal examination, no tenderness or visceromegaly are detected, and her bowel sounds are normal.
Laboratory investigations reveal a serum hemoglobin level of 8.7 g/dL, with a mean corpuscular volume of 68 fL, a platelet count of 348,000/μL (normal range, 150,000-450,000/μL) and a white blood cell count of 3980/μL (normal range, 4,500-10,000/μL). Her eosinophil levels are at 3% (within the normal range). Peripheral blood films show evidence of hypochromic microcytic anemia. The erythrocyte sedimentation rate is 30 mm/hr. Her serum iron is measured at 20 µg/dL (normal range, 26-170 µg/dL), serum ferritin levels are 10 ng/mL (normal range, 12-160 ng/mL), and total iron binding capacity is 580 µg/dL (normal range, 262-474 µg/dL). Vitamin B12 levels are normal, serum glucose is measured at 65 mg/dL, and renal function, liver function, and serum electrolyte tests are normal. Her sodium level is 140 mEq/L, potassium level is 5.6 mEq/L (high), serum urea level is 60 mg/dL (high), and serum creatinine level is 1.0 mg/dL. An ECG reveals no abnormalities. Although urinalysis shows 2+ leukocytes, culture and sensitivities are normal. Serum calcium is 9.6 mg/dL, which is rapidly corrected to 10.16 mg/dL. Blood cultures and sensitivity testing remain negative. The arterial blood gas is normal. The anti-transglutaminase antibody (anti-TTG) test shows an immunoglobulin A (IgA) level of 6.1 μ/mL (normal range, < 7 μ/mL) and an immunoglobulin G (IgG) level of 6.2 μ/mL (normal range,< 15 μ/mL; borderline, 15-17 μ/mL; elevated, > 17 μ/mL). Serum cortisol measured in the evening is 0.11 μg/dL (normal range, 1.7-16.6 μg/dL) and again in the morning is 4.2 μg/dL (normal range, 6-23 μg/dL). In addition, her adrenocorticotropin (ACTH) level is 75.8 pg/mL (normal range,< 46 pg/mL), her thyroid-stimulating hormone level (TSH) is 3.5 mIU/L (normal range, 0.5-4.70 mIU/L), triiodothyronine (T3) level is 4.4 pmol/L (normal range, 3.5-6.5 pmol/L), thyroxine (T4) level is 18.7 pmol/L (normal range, 10-23 pmol/L), serum parathormone level is 35 pg/mL (normal range, 10-55 pg/mL), luteinizing hormone level is 1.17 mIU/mL (normal range, 0.5-9.0 mIU/mL), follicle-stimulating hormone (FSH) level is 4.72 mIU/mL (normal range, 3-10 mIU/mL), and parathyroid hormone (PTH) level is 58.00 pg/mL (normal range, 16-87 pg/mL). A swab taken from the oral mucosa reveals Candida albicans. Chest x-rays, abdominal and pelvic ultrasounds, and a barium follow-through are all normal.
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