Endocrinology Flashcards by juhee lee

[Endo/Puberty]

Sexual development sequences in female? (5)

Thelarche (breast)
Pubarche
Peak height velocity
Adrenarche
Menarche

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[Endo/Puberty]

Sexual development sequences in male? (6)

Testicular enlargement
Pubarche
Penis growth
Adrenarche
Ejaculation
Growth spurt

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[Endo/Puberty/Precocious]

Secondary sexual development prior to ___ years in girls
Secondary sexual development prior to ___ years in boys

Secondary sexual development prior to 8 years in girls
Secondary sexual development prior to 9 years in boys

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[Endo/Puberty/Delayed]

Age for delayed puberty in boys and girls

No __ development by __ years in girls
No __ enlargement by __ years in boys

No breast development by 13 years in girls
No testicular enlargement by 14 years in boys

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[Endo/Puberty]

For girls,
Peak height velocity occurs at SMR stage __ to __

For boys,
Peak height velocity occurs at SMR stage __ to __

Girl Peak height velocity occurs at SMR stage 2 to 3
Boy Peak height velocity occurs at SMR stage 3 to 4

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[Endo/Puberty]

For girls,
Menarche occurs at SMR stage ___

SMR stage 4

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[Endo/Puberty/Gynecomastia]

When to investigate for pubertal gynecomastia? (3)

If occurs in SMR __
Atypical age __ or >__ years old
Gynecomastia > __ cm

If occurs in SMR 1 or 5 (usually seen in SMR 2-4)
Atypical age < 10 or >16 years old
Gynecomastia > 5 cm

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[Endo/Pituitary]

Hormones from posterior pituitary gland? (2)

ADH
Oxytocin

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[Endo/Pituitary]

Hormones from anterior pituitary gland? (6)

GH
TSH
ACTH
FSH
LH
Prolactin

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[Endo/Pituitary/Cong Hypopituitarism]

Diagnosis?

Abnormality of optic nerve
Septum pellucidum or corpus callosum agenesis or hypoplasia
Variable degrees of hypothalamic insufficiency

Septooptic dysplasia

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[Endo/Pituitary/Cong Hypopituitarism]

Causes of congenital hypopituitarism? (5)

Septooptic dysplasia
Midfacial anomalies
Empty sella
Ectopic posterior pituitary gland
Craniopharyngioma

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[Endo/Short Stature]

Constitutional vs genetic vs hormone

Normal growth velocity
Delayed bone age
Pubertal delay

Constitutional growth delay

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[Endo/Short Stature]

Constitutional vs genetic vs hormone

Normal growth velocity
Normal bone age
Family history of short stature

Genetic

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[Endo/Short Stature]

Constitutional vs genetic vs hormone

Decreased growth velocity
Delayed bone age
+/- family history of short stature

Hormone (GH deficiency or hypothyroidism)

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[Endo/Short Stature/GH deficiency]

Age limit for (Growth Hormone) GH treatment in GH deficiency?

Girls bone age: ___
Boys bone age: ___

Girls bone age: 14
Boys bone age: 16

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[Endo/Short Stature/GH deficiency]

Side effects of growth hormone treatment? (5)

Slipped capital femoral epiphysis (SCFE)
Pseudotumor cerebri
Transient carbohydrate intolerance
Transient hypothyroidism
Scoliosis

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[Endo/DI]

Most common drug to cause nephrogenic diabetes insipidus?

Lithium

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[Endo/DI]

Treatment for nephrogenic diabetes insipidus? (2)

Thiazide (reduce urine output)
Indomethacin (reduce urine output)

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[Endo/Hyponatremia]

Cerebral salt waisting vs SIADH vs ACTH-A-C axis deficiency

Hyponatremia
Increased urine output
High urine Na
High ANP
Hypovolemia

Cerebral salt waisting
(Due to CNS disorders: brain tumor, head trauma)

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[Endo/Hyponatremia]

Cerebral salt waisting vs SIADH vs ACTH-A-C axis deficiency

Hyponatremia
Decreased urine output
High urine Na
High vasopressin
Euvolemia

Syndrome of inappropriate antidiuretic hormone secretion (SIADH)
(Due to pneumonia, tumors, tuberculosis, CNS injury)

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[Endo/Hyponatremia]

Cerebral salt waisting vs SIADH vs ACTH-A-C axis deficiency

Hyponatremia
Increased urine output with low osmolality
Low cortisol
Hypoglycemia

ACTH-Adrenal-Cortisol Axis deficiency

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[Endo/Hyponatremia]

Treatment?

Cerebral salt waisting: ___
SIADH : ___

Cerebral salt waisting: Na replacement with 3% saline
SIADH : Fluid restriction, demeclocycline

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[Endo/Tall Stature]

Causes of Tall stature?

Genetic (3): ___
Overgrowth syndrome (1): ___
Pituitary gigantism/acromegaly (2): ___
Cerebral gigantism (1): ___

Genetic : Klinefelter, Marfan, Homocystinuria
Overgrowth syndrome: Beckwith-Wiedemann
Pituitary gigantism/acromegaly: McCune-Albright, Carney complex
Cerebral gigantism: Soto

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[Endo/Tall Stature]

Diagnosis?

Freckles around eyes and lips
Cardiac myxoma
Adrenal tumor/cushing syndrome
Schwannoma

Carney complex

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# [Endo/Tall Stature] Medical treatment for tall stature due to growth hormone excess (2)?

1. Octreotide (somaostatin analogs) 2. Pegvisomant (GH receptor antagonist)

# [Endo/Pit/Prolactinoma] Treatment for prolactinoma (2)?

Cabergoline Bromocriptine

# [Endo/Puberty/Precocious] Most common brain tumor for central precocious puberty?

Hypothalamic hamartoma

# [Endo/Puberty/Precocious] Causes of precocious puberty? Girls < 8 years old Breast, pubic hair, growth spurt, Advanced bone age GnRH stimulation test, increased peak LH Negative brain MRI

Idiopathic central precocious puberty

# [Endo/Puberty/Precocious] Cause of precocious puberty? Boys < 9 years old Testicular enlargement Pubertal LH Negative Brain MRI

Idiopathic central precocious puberty (FSH grows testicles, gonadal involvement = central)

# [Endo/Puberty/Precocious] Causes of precocious puberty? Precocious puberty with central features Diabetes insipidus Hyperthermia Unnatural laughing

Hypothalamic hamartomas, central precocious puberty

# [Endo/Puberty/Precocious] Causes of female peripheral (Gonadotropin-independent) precocious puberty (4)?

1. Ovarian cysts/tumors 2. Feminizing adrenal tumors 3. McCune-Albright 4. Exogenous

# [Endo/Puberty/Precocious] Causes of male peripheral (Gonadotropin-independent) precocious puberty (4)?

1. Congenital adrenal hyperplasia, adrenal tumors, 2. Leydig cell tumors 3. Familial male limited precocious puberty 4. Exogenous.

# [Endo/Puberty/Precocious] Cause of precocious puberty? Boys < 9 years old Testicular enlargement Suppressed LH Detectable hCG

hCG-secreting tumor: germ cell tumor, (hCG acts on FSH receptor, increased testicle size)

# [Endo/Puberty/Precocious] Most common estrogen secreting tumor?

Juvenile granulosa cell tumor

# [Endo/Puberty/Precocious] Most common gonadal tumor? Associated with Turner with Y chromosome mosaicism

Gonadoblastomas (Virilizing adrenal tumor, prophylactic removal can be done)

# [Endo/Puberty/Precocious] Name of disease? Boys between 2 and 3 years old Spontaneous erection, masturbatory behavior Mildly increased testicle size Premature adrenarche Penile enlargement Very high testosterone level Advanced bone age

Familial Male Gonadotropin-Independent Precocious Puberty (Missense mutation of the LH receptor, activation of Leydig cells)

# [Endo/Puberty/Precocious] Premature thelarche is an isolated finding in girls before ___ age and benign finding in the first ___ age

Premature thelarche is an isolated finding in girls before 8 years old and benign finding in the first 2 years old (For boys: gynecomastia)

# [Endo/Puberty/Precocious] Causes of isolated premature menarche/vaginal bleeding? (3)

1. Foreign body 2. Vulvovaginitis 3. Sexual abuse (Rarely endocrine disorder when isolated finding, estrogen works in both breast and uterus)

# [Endo/Thyroid/TBG] Increase TBG (Thyroxine Binding Globulin) (3)

1. Estrogen, tamoxifen 2. Narcotics 3. Hepatitis, biliary cirrhosis

# [Endo/Thyroid/TBG] Decrease TBG (Thyroxine Binding Globulin) (4)

1. Androgens 2. Glucocorticoids 3. Nephrotic syndrome 4. Inherited TBG deficiency

# [Endo/Thyroid] Blocks thyroidal release of T4 and T3 (2)

1. Lithium 2. Iodine

# [Endo/Thyroid/Hypo] Congenital vs transient vs transient congenital Mostly due to thyroid dysgenesis Mostly asymptomatic at birth

Congenital hypothyroidism

# [Endo/Thyroid/Hypo] Congenital vs transient vs transient congenital Mostly due to maternal Graves disease or thyroid blocking antibodies Resolves by 3 months of age

Transient hypothyroidism

# [Endo/Thyroid/Hypo] Congenital vs transient vs transient congenital Due to iodine deficiency

Transient congenital hypothyroidism

# [Endo/Thyroid/Hypo] Common imaging finding in asymptomatic newborn of congenital hypothyroidism (3)?

1. Absent distal femoral epiphysis (normal present at birth, due to delayed bone maturation from hypothyroidism) 2. Deformed vertebrae (thoracic or lumbar) 3. Large sutures

# [Endo/Thyroid/Hypo] Most common malformations associated with congenital hypothyroidism?

1. Kidney defects 2. Cardiovascular anomalies (Pulmonary stenosis, ASD, VSD)

# [Endo/Ca-Phos] High Calcium and High Phosphorus: ____ Low Calcium and Low Phosphorus: ____ High Calcium and Low Phosphorus: ____ Low Calcium and High Phosphorus: ____

High Calcium and High Phosphorus: High Vit D Low Calcium and Low Phosphorus: Low Vit D High Calcium and Low Phosphorus: High PTH Low Calcium and High Phosphorus: Low PTH

# [Endo/Ca-Phos/Hypocalcemia] Genetic condition? Episodic hypocalcemia Short stature Medullary stenosis of long bones Delayed bone age Eye abnormalities

Kenny Caffey syndrome

# [Endo/APS] Autoimmune Polyglandular Syndrome APS Type 1 C: ___ A: ___ P: ___

Candidiasis Adrenal insufficiency (Primary) Parathyroidism (Hypo) (Autosomal recessive AIRE gene)

# [Endo/APS] Autoimmune Polyglandular Syndrome APS Type 2 D: A: or T:

Diabetes mellitus type 1 AND Adrenal insufficiency (Primary) OR Thyroid (autoimmune) (Associated with HLA-DR3 and HLA-DR4)

# [Endo/APS] Autoimmune Polyglandular Syndrome APS Type 3 T: A: or P:

Thyroid (Autoimmune) AND Adrenal insufficiency (Primary) OR Parathyroid (Hypo)

# [Endo/Parathy/Hypo] Diagnosis? Present with Tetany Short 4th 5th finder metacarpal bone Intellectual disability High PTH, Low Ca, High Phos

Pseudohypoparathyroidism Type 1a (Maternal imprinting of GNAS mutation)

# [Endo/Parathy/Hypo] Diagnosis? Present with Tetany Short 4th 5th finder metacarpal bone Intellectual disability Labs are normal

Pseudopseudohypoparathyroidism (Paternal imprinting of GNAS mutation)

# [Endo/Ca-Phos] Which disorder X-ray imaging? Irregular calcification Cupping of the metaphysis Fraying and widening of the growth plate Diffuse osteomalacia

Ricket (Calcium/phos abnormality, Vit D metabolism, secondary hyperparathyroidism)

# [Endo/Ca-Phos/VitD] Vit D def vs 25-OH vs 1-a OH vs resistance of 1,25 OH Low Ca Low Phos Low 25-OH D Normal 1, 25 OH D High PTH

Vit D deficiency

# [Endo/Ca-Phos/VitD] Vit D def vs FHR vs 25-OH vs 1-a OH vs resistance of 1,25 OH Normal Ca Very Low Phos Normal 25-OH D Normal 1, 25 OH D Normal PTH

Familial Hypophosphatemic Rickets (FHR) (phosphorus-wasting kidney disease, PTH response to Ca not Phos)

# [Endo/Ca-Phos/VitD] Vit D def vs FHR vs 25-OH vs 1-a OH vs resistance of 1,25 OH Normal Ca Low Phos Low 25-OH D Normal 1, 25 OH D High PTH

25-hydroxylase deficiency (Low precursor; 25 OH D, Low Phos and Low Ca, High PTH, normalize Ca)

# [Endo/Ca-Phos/VitD] Vit D def vs FHR vs 25-OH vs 1-a OH vs resistance of 1,25 OH Low Ca Low Phos Normal 25-OH D Low 1, 25 OH D Very High PTH

1-a hydroxylase deficiency

# [Endo/Ca-Phos/VitD] Vit D def vs FHR vs 25-OH vs 1-a OH vs resistance of 1,25 OH Low Ca Low Phos Normal 25-OH D High 1, 25 OH D High PTH

Resistance of 1, 25 vitamin D

# [Endo/Ca-Phos/hypercalcemia] Most common cause of hypercalcemia?

Immobilization

# [Endo/MEN] Multiple Endocrine Neoplasia MEN Type 1 P: ___ P: ___ P: ___

Parathyroid hyperplasia Pituitary tumors Pancreatic islet cell tumors

# [Endo/MEN] Multiple Endocrine Neoplasia MEN Type 2 P: ___ M: ___ P: ___

Pheochromocytoma Medullary Thyroid cancer Parathyroid hyperplasia

# [Endo/MEN] Multiple Endocrine Neoplasia MEN Type 2 M: ___ P: ___ M: ___

Marfanoid/mucosal neuroma Pheochromocytoma Medullary Thyroid cancer

# [Endo/Adrenal] Adrenal cortex layer, its hormone G: ___ S: ___ F: ___ S: ___ R: ___ S: ___

G: Gramerulosa, Salt: Mineralocorticoids F: Fasciculata, Sugar: Cortisol R: Reticularis, Sex: Androgens

# [Endo/Adrenal/Aldo] Effect of Aldosterone Na: ___ K: ___ H: ___

Na: Increase K: Decrease H: Decrease (Hypertension, hypernateremic, hypokalemic metabolic alkalosis)

# [Endo/Adrenal] Primary vs Secondary vs Tertiary adrenal insufficiency Salt craving, hyperpigmentation Low Na High K High H Low Aldosteron High ACTH High Renin

Primary adrenal insufficiency

# [Endo/Adrenal] Most common cause of adrenal insufficiency

Missing or abrupt stopping of glucocorticoid therapy

# [Endo/Adrenal] Name of syndrome? Adrenal hemorrhage in meningococcemia

Waterhouse-Friderichsen syndrome

# [Endo/Adrenal/CAH] 21-OH vs 3 b HSD vs 11 b OH Female newborn with virilization or Normal male newborn Salt-wasting, adrenal crisis at 2 weeks of age High 17-hydroxyprogesterone High testosterone (Hyponatermia, hyperkalemia, acidosis)

21-hydroxylase deficiency

# [Endo/Adrenal/CAH] 21-OH vs 3 b HSD vs 11 b OH Female with mild virilization Male with incomplete virilization Premature adrenarche in infancy High 17-hydroxypregnenolne Very high DHEA

3-β hydroxysteroid dehydrogenase deficiency (3β HSD deficiency)

# [Endo/Adrenal/CAH] 21-OH vs 3 b HSD vs 11 b OH Hypertension Female with virilization or Normal male High 11-deoxycortisol

11-β hydroxylase deficiency (Hypertension ↑↑, 11β)

# [Endo/Cortisol] Cushing syndrome: ___ Cushing disease: ___ Cushing triad: ___

Cushing syndrome: Elevated glucocorticoid levels Cushing disease: ACTH secretion from pituitary gland Cushing triad: Bradycardia, wide pulse pressure, irregular breathing in IICP

# [Endo/Adrenal/Hyperaldo] Causes of secondary hyperaldosteronism? (5)

1. Renal artery stenosis 2. Nephrotic syndrome 3. Wilms tumor 4. Heart failure 5. Cirrhosis

# [Endo/Atypical genitalia/Congenital anorchia] If testes fail to develop within ___ weeks, the baby will have female genitalia If testes fail to develop between ___ and ___ weeks, the baby will have ambiguous genitalia If testes fail to develop after ___ weeks, the baby will have male genitalia with no testes

If testes fail to develop within 8 weeks, the baby will have female genitalia If testes fail to develop between 8 and 10 weeks, the baby will have ambiguous genitalia If testes fail to develop after 14 weeks, the baby will have male genitalia with no testes

# [Endo/Atypical genitalia/Hypogonadism] Genetic syndromes with hypogonadism (4)

1. Klinefelter syndrome 2. Prader-Willi syndrome 3. Bardet-Biedl syndrome 4. Laurence-Moon syndrome

# [Endo/PCOS] Rotterdam criteria for PCOS (two of three) (3)

1. Hyperandrogenism (high T levels) 2. Oligo-, anovulation 3. Polycystic ovaries on ultrasound

# [Endo/DSD] Disorders of Sex Development ___ medication for endometriosis has androgen effect and cause virilization, female ambiguous genitalia

Danazol

# [Endo/DSD] Denys-Drash vs Swyer vs Persistent mullerian duct If 46, XY, Ambiguous genitalia If 46 XX, normal female Nephropathy Wilms tumor

Denys-Darsh syndrome (WT1 gene mutation, total deficiency of testicular function)

# [Endo/DSD] Denys-Drash vs Swyer vs Persistent mullerian duct 46, XY Complete female at birth (Vagina, uterus, non-functional gonads/ovaries) No pubertal development

Swyer syndrome (XY pure gonadal dysgenesis) (SRY gene mutation)

# [Endo/DSD] Denys-Drash vs Swyer vs Persistent mullerian duct 46, XY Complete male organs Also Female organs: uterus, fallopian tubes

Persistent mullerian duct syndrome (defect in mullerian inhibiting substance or resistance to MIS)

# [Endo/DSD] Mullerian agenesis vs AIS vs 5α 46, XX Primary amenorrhea Absent uterus Normal functioning ovary Blind vaginal pouch

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome = Mullerian agenesis (embryologic underdevelopment of the müllerian duct)

# [Endo/DSD] Mullerian agenesis vs AIS vs 5α 46, XY Female phenotype Absent uterus, blind vaginal pouch Normal male testosterone Abdominal testicles No male reproductive tract

Androgen insensitivity syndrome :Defects in androgen receptor gene -> No androgen, no wolfian duct development

# [Endo/DSD] Mullerian agenesis vs AIS vs 5α 46, XY Sex assigned female at birth Micropenis, bifid scrotum, blind vaginal pouch, absent uterus Male secondary pubertal development Normal male testosterone Normal male reproductive tracts

5α reductase deficiency :Testosterone is not converted to a more potent form, dihydrotestosterone

# [Endo/Amenorrhea/Primary] Cause for Primary amenorrhea? Uterus/ovary present High FSH Low estrogen

Primary ovarian failure (e.g. Turner)

# [Endo/Amenorrhea/Primary] Cause for Primary amenorrhea? (4) Normal karyotype Normal internal sex organ Low or normal FSH Low Estrogen

1. Functional hypothalamic amenorrhea 2. Congenital GnRH deficiency 3. Prolactonoma 4. Androgen-secreting tumor

# [Endo/DM/T2DM] HbA1c between ___ and ___: Metformin HbA1c ≥ ___: start insulin

HbA1c between 6.5 and 8.5: Metformin HbA1c ≥ 8.5: start insulin

# [Endo/Metabolic syndrome] Criteria for metabolic syndrome (three out of six)

1. BMI > 97% 2. TGs >110 mg/dL 3. HDL cholesterol: <40 mg/dL 4. SBP/DBP: >90 % 5. Fasting glucose >110 or OGTT > 140 6. Waist > 90%

# [Endo/DM/MODY] 1st line therapy for Maturity-onset diabetes of the young?

Sulfonylurea

# [Endo/DM] Name of syndrome (Insulin resistance syndrome)? Intrauterine growth restriction Fasting hypoglycemia Postprandial hyperglycemia Facial dysmorphism

Donohue syndrome : INSR gene mutation (Insulin receptor)

# [Endo/Puberty/Delayed] Name of syndrome (Delayed puberty)? Cranial nerve 1 (olfactory nerve) Red-green color blindness Midline facial abnormalities (such as cleft lip/palate) Urogenital tract abnormalities Neurosensory hearing loss Mirror movements No pubertal development

Kallmann syndrome

# [Endo/Puberty/Delayed] Name of disorder? GnRH deficiency Cryptorchidism Unilateral renal agenesis Hyposmia or anosmia (Kallmann syndrome) Syndactyly Cleft lip/palate

Congenital GnRH deficiency

# [Endo/genetic] Genetic cause of Fibrous dysplasia / McCune-Albright syndrome (FD/MAS)?

Somatic activating GNAS pathogenic variant (Always mosaicism)

# [Endo/genetic] Characteristics of Fibrous dysplasia/McCune-Albright syndrome (FD/MAS)? (3)

1. Café au lait skin macules (the first manifestation, at or shortly after birth) 2. Fibrous dysplasia (FD): progressive scoliosis, facial deformity, and loss of mobility, vision, and/or hearing. 3. Endocrinopathies/precocious puberty

# [Endo/genetic] Name of anomaly? With cafe au lait macules and endocrinopathies/precocious puberty

Fibrous dysplasia