What is the diagnosis for a 12-year-8-month-old girl with a history of low birth weight, premature birth via Lower Segment Caesarean Section (LSCS) due to transverse lie, delayed crying after birth, normal motor milestones, poor scholastic performance, hyperphagia, hyperglycemia (blood glucose level of 400mg/dl), and oligomenorrhea, who is being treated with metformin (metformin) for diabetes and has short stature (<3rd centile) and weight between the 10th-25th percentile, with tall parents?

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Differential Diagnosis

  • Single most likely diagnosis
    • Prader-Willi Syndrome (PWS): This diagnosis is likely due to the combination of low birth weight, poor scholastic performance, hyperphagia, early onset of diabetes, short stature, and oligomenorrhea. The absence of retinitis pigmentosa and limb abnormalities does not rule out PWS, as these features are not universally present.
  • Other Likely diagnoses
    • Turner Syndrome: Although the patient has attained menarche, Turner Syndrome can present with short stature, oligomenorrhea, and diabetes. The lack of characteristic physical features and normal motor milestones do not exclude this diagnosis.
    • Polycystic Ovary Syndrome (PCOS): The patient's hyperphagia, early onset of diabetes, and oligomenorrhea could be consistent with PCOS. However, the short stature and poor scholastic performance are not typical features of PCOS.
  • Do Not Miss
    • Congenital Hypopituitarism: This diagnosis could explain the short stature, oligomenorrhea, and diabetes. Although the patient has attained menarche, partial hypopituitarism could still be present.
    • Pseudohypoparathyroidism: This condition can cause short stature, obesity, and diabetes. The absence of characteristic physical features does not rule out this diagnosis.
  • Rare diagnoses
    • Bardet-Biedl Syndrome: Although the patient does not have retinitis pigmentosa or limb abnormalities, some forms of Bardet-Biedl Syndrome may not exhibit these features. The combination of obesity, diabetes, and oligomenorrhea could be consistent with this diagnosis.
    • Albright Hereditary Osteodystrophy: This rare condition can cause short stature, obesity, and diabetes. The absence of characteristic physical features does not rule out this diagnosis.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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