Endocrinology Flashcards
[Endo/Puberty]
Sexual development sequences in female? (5)
- Thelarche (breast)
- Pubarche
- Peak height velocity
- Adrenarche
- Menarche
[Endo/Puberty]
Sexual development sequences in male? (6)
- Testicular enlargement
- Pubarche
- Penis growth
- Adrenarche
- Ejaculation
- Growth spurt
[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
[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
[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
[Endo/Puberty]
For girls,
Menarche occurs at SMR stage ___
SMR stage 4
[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
[Endo/Pituitary]
Hormones from posterior pituitary gland? (2)
ADH
Oxytocin
[Endo/Pituitary]
Hormones from anterior pituitary gland? (6)
GH
TSH
ACTH
FSH
LH
Prolactin
[Endo/Pituitary/Cong Hypopituitarism]
Diagnosis?
Abnormality of optic nerve
Septum pellucidum or corpus callosum agenesis or hypoplasia
Variable degrees of hypothalamic insufficiency
Septooptic dysplasia
[Endo/Pituitary/Cong Hypopituitarism]
Causes of congenital hypopituitarism? (5)
- Septooptic dysplasia
- Midfacial anomalies
- Empty sella
- Ectopic posterior pituitary gland
- Craniopharyngioma
[Endo/Short Stature]
Constitutional vs genetic vs hormone
Normal growth velocity
Delayed bone age
Pubertal delay
Constitutional growth delay
[Endo/Short Stature]
Constitutional vs genetic vs hormone
Normal growth velocity
Normal bone age
Family history of short stature
Genetic
[Endo/Short Stature]
Constitutional vs genetic vs hormone
Decreased growth velocity
Delayed bone age
+/- family history of short stature
Hormone (GH deficiency or hypothyroidism)
[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
[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
[Endo/DI]
Most common drug to cause nephrogenic diabetes insipidus?
Lithium
[Endo/DI]
Treatment for nephrogenic diabetes insipidus? (2)
- Thiazide (reduce urine output)
- Indomethacin (reduce urine output)
[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)
[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)
[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
[Endo/Hyponatremia]
Treatment?
Cerebral salt waisting: ___
SIADH : ___
Cerebral salt waisting: Na replacement with 3% saline
SIADH : Fluid restriction, demeclocycline
[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
[Endo/Tall Stature]
Diagnosis?
Freckles around eyes and lips
Cardiac myxoma
Adrenal tumor/cushing syndrome
Schwannoma
Carney complex
[Endo/Tall Stature]
Medical treatment for tall stature due to growth hormone excess (2)?
- Octreotide (somaostatin analogs)
- 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)?
- Ovarian cysts/tumors
- Feminizing adrenal tumors
- McCune-Albright
- Exogenous
[Endo/Puberty/Precocious]
Causes of male peripheral (Gonadotropin-independent) precocious puberty (4)?
- Congenital adrenal hyperplasia, adrenal tumors,
- Leydig cell tumors
- Familial male limited precocious puberty
- 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)
- Foreign body
- Vulvovaginitis
- Sexual abuse
(Rarely endocrine disorder when isolated finding, estrogen works in both breast and uterus)
[Endo/Thyroid/TBG]
Increase TBG (Thyroxine Binding Globulin) (3)
- Estrogen, tamoxifen
- Narcotics
- Hepatitis, biliary cirrhosis
[Endo/Thyroid/TBG]
Decrease TBG (Thyroxine Binding Globulin) (4)
- Androgens
- Glucocorticoids
- Nephrotic syndrome
- Inherited TBG deficiency
[Endo/Thyroid]
Blocks thyroidal release of T4 and T3 (2)
- Lithium
- 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)?
- Absent distal femoral epiphysis
(normal present at birth, due to delayed bone maturation from hypothyroidism) - Deformed vertebrae (thoracic or lumbar)
- Large sutures
[Endo/Thyroid/Hypo]
Most common malformations associated with congenital hypothyroidism?
- Kidney defects
- 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)
- Renal artery stenosis
- Nephrotic syndrome
- Wilms tumor
- Heart failure
- 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)
- Klinefelter syndrome
- Prader-Willi syndrome
- Bardet-Biedl syndrome
- Laurence-Moon syndrome
[Endo/PCOS]
Rotterdam criteria for PCOS
(two of three) (3)
- Hyperandrogenism (high T levels)
- Oligo-, anovulation
- 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
- Functional hypothalamic amenorrhea
- Congenital GnRH deficiency
- Prolactonoma
- 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)
- BMI > 97%
- TGs >110 mg/dL
- HDL cholesterol: <40 mg/dL
- SBP/DBP: >90 %
- Fasting glucose >110 or OGTT > 140
- 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)
- Café au lait skin macules (the first manifestation, at or shortly after birth)
- Fibrous dysplasia (FD):
progressive scoliosis, facial deformity, and loss of mobility, vision, and/or hearing. - Endocrinopathies/precocious puberty
[Endo/genetic]
Name of anomaly?
With cafe au lait macules and endocrinopathies/precocious puberty
Fibrous dysplasia
