Rabson–Mendenhall syndrome is an uncommon genetic disorder that presents with a range of distinct characteristics. These include stunted growth, abnormal physical features, such as coarse facial features and crowded teeth, and a lack of subcutaneous fat. Additionally, individuals with Rabson–Mendenhall syndrome may experience enlarged genitalia, excessive hair growth (hirsutism), and abnormal glucose regulation. Pineal hyperplasia, a condition characterized by the enlargement of the pineal gland. In this case report, two cases of Rabson–Mendenhall syndrome have been highlighted. The first case involves a 3-year-old boy who has been experiencing excessive urination (polyuria) and increased thirst (polydipsia) for the past year and a half. The second case involves a 7-year-old girl who presented with diabetic ketoacidosis (DKA), a severe complication of diabetes, along with persistent high blood sugar levels (hyperglycemia), metabolic acidosis, and failure to thrive. The girl also exhibited dry skin (xerosis), increased skin pigmentation (hyperpigmentation), and clitoromegaly, which is the abnormal enlargement of the clitoris.

Keywords: Rabson–Mendenhall syndrome, RMS, hyperinsulinemia, hirsutism, clitoromegaly, diabetic ketoacidosis, hyperglycemia

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Rabson–Mendenhall syndrome is an uncommon genetic disorder that presents with a range of distinct characteristics. These include stunted growth, abnormal physical features, such as coarse facial features and crowded teeth, and a lack of subcutaneous fat. Additionally, individuals with Rabson–Mendenhall syndrome may experience enlarged genitalia, excessive hair growth (hirsutism), and abnormal glucose regulation. Pineal hyperplasia, a condition characterized by the enlargement of the pineal gland. In this case report, two cases of Rabson–Mendenhall syndrome have been highlighted. The first case involves a 3-year-old boy who has been experiencing excessive urination (polyuria) and increased thirst (polydipsia) for the past year and a half. The second case involves a 7-year-old girl who presented with diabetic ketoacidosis (DKA), a severe complication of diabetes, along with persistent high blood sugar levels (hyperglycemia), metabolic acidosis, and failure to thrive. The girl also exhibited dry skin (xerosis), increased skin pigmentation (hyperpigmentation), and clitoromegaly, which is the abnormal enlargement of the clitoris.

Keywords: Rabson–Mendenhall syndrome, RMS, hyperinsulinemia, hirsutism, clitoromegaly, diabetic ketoacidosis, hyperglycemia

🔒 This is a subscription article

Full text is available to subscribers and institutional members. Please choose an option below to access it.