Type 1 diabetes mellitus — Flashcards

Flashcard 1: Etiologies of _____ diabetes insipidus include pituitary tumor, autoimmune, trauma, surgery, and ischemic encephalopathy

Answer: central

Flashcard 2: Which form of diabetes mellitus is characterized by weight loss?_____

Answer: Type 1 Diabetes

Flashcard 3: Will a diabetic ketoacidosis patient present with hyper- or hypo-glycemia?_____

Answer: Hyperglycemia (usually >300 mg/dL)

Flashcard 4: Type _____ diabetes mellitus is characterized by insulin resistance

Answer: 2

Flashcard 5: Kallmann syndrome

Answer: defective migration of GnRH cells

Extra: anosmia, lack of secondary sex characteristicsdecreased: GnRH, FSH, LH, testosterone, sperm count

Flashcard 6: Hormone profile in Hypogonadotropic Hypogonadism (LH/FSH and Sex Steroids)

Answer: Decreased LH/FSH and decreased Testosterone/Estrogen

Extra: Hypogonadotropic hypogonadism (secondary hypogonadism) is characterized by low gonadotropins (LH, FSH) which leads to low sex steroid production. Contrast with Hypergonadotropic hypogonadism (primary): High LH/FSH, low sex steroids.

Flashcard 7: Hormonal profile in primary hypogonadism:

Answer: Increased LH, Decreased Testosterone

Extra: In primary hypogonadism (hypergonadotropic hypogonadism), the problem is at the level of the testes. Loss of negative feedback from testosterone leads to a compensatory rise in LH (and FSH).

Flashcard 8: What is the basic defect in Androgen Insensitivity Syndrome?

Answer: Defect in androgen receptor

Extra: • Genotype: 46, XY (Normal male) • Phenotype: Female external genitalia, rudimentary/blind-pouch vagina, absent uterus/tubes (due to MIF). • Gonads: Internal testes (often in labia/inguinal canal). • Labs: Increased Testosterone, LH, and Estrogen. • Clinical: Scant sexual hair (distinguishes from Mullerian agenesis).

Flashcard 9: What is the fundamental defect in 5α-reductase deficiency?

Answer: Inability to convert testosterone to DHT (Dihydrotestosterone)

Extra: - Presentation: Male internal genitalia, ambiguous external genitalia until puberty (when increased testosterone leads to virilization). - Lab findings: Normal testosterone and estrogen; LH normal or slightly increased. - Inheritance: Autosomal Recessive (AR).

Flashcard 10: Components of Multiple Endocrine Neoplasia (MEN) syndromes (MEN 1, 2A, 2B)

Answer: Inheritance: Autosomal Dominant (AD) MEN 1 (Wermer syndrome): 3 P's (Pituitary, Parathyroid, Pancreas) MEN 2A (Sipple syndrome): 2 P's (Parathyroid, Pheochromocytoma) + Medullary thyroid Cancer MEN 2B: 1 P (Pheochromocytoma) + Medullary thyroid Cancer + Mucosal neuromas/Marfanoid habitus

Extra: MEN 1: MEN1 gene (Menin) MEN 2A & 2B: RET proto-oncogene Common features: - Parathyroid: Hyperplasia/Adenoma - Pancreas: Gastrinoma, Insulinoma, VIPoma - Pituitary: Prolactinoma - Adrenal medulla: Pheochromocytoma - Thyroid: Medullary Thyroid Carcinoma (MTC)