Endocrine Flashcards
Prolactin inhibitory hormone
Dopamine
Most reliable vitamin D test
25-hydroxyvitamin D
adrenal insufficiency
ACTH elevated if primary cortisol def
Investigate with synacthen test
Adjusted na equation in DKA
Na + 0.3(glucose-5.5)
Serum osmolality equation
2xNa + glu
Leydig cells secrete
SRY gene develop leydig cells which secrete testosterone
Sertoli cells secrete
AMH
> 90% CAH from
21-hydroxylase def
High 17-hydroxyprogesterone
(70% aldosterone and cortisol def)
Hypothalamic hamartoma clinically
Precocious puberty
DI
Gelastic sz (laughing or crying)
McCune Albright clinically (triad and other)
Classic triad:
Precocious puberty (peripheral) endo gain of function
Polyostotic Fibrous dysplasia
Cafe au lait (rarely cross midline)
Other: – Phosphate wasting (hypophosphataemic rickets) – Growth hormone excess (gigantism) – Cushing's syndrome – Thyrotoxicosis – Cardiac arrhythmias – Cholestasis etc - Ovarian cysts secreting oestrogen
Mesomelia =
Shortening of the intermediate segment of limbs
Rhizomelia =
Shortening of proximal segment of limbs
Acromelia =
Shortening of distal segments of limbs
Two subgroups of skeletal dyplasias
Spinal changes dominant or minimal/absent (sitting height)
Multiple epiphysis like dysplasia and metsphyseal dysplasias are characterised by…
Pain and stiffness in joints as well as less pronounced growth failure
Madelung deformity is
Dinner fork deformity of wrist
Keri-Weill dyschondrosteosis is
Mesomelic limb shortening and madelung deformity
Haploinsufficiency of SHOx chromosome like cause of turners short stature
SHOX gene analysis (dated at pseudo-autosomal dominant region at terminal ends of both sex chromosomes)
XXY is taller or shorter or same height
Taller (SHOX dose effect)
Test for GH def
IGF1 and IGFBP3
Differential diagnosis of suprasellar SOL
Craniopharyngioma (calcified) Optic glioma Arachnoid cyst Astrocytoma Epidermis cyst Germinoma Pineocytoma Aneurysm
Complication post op of craniopharyngioma resection (benign)
Recurrence
Obesity (likely from hypothalamic damage)
Male infants testosterone <6m
Same magnitude as early puberty and low indicates hypogonadotrophic hypogonadism
What to replace first in septooptic dysplasia
Cortisol then thyroid to avoid addisonian like crisis
Bamforth-Lazarus syndrome presentation and defect
Homozygous mutation in TTF-2 gene locus
Congenital hypothyroid, poor tone, spiked hair, cleft
Treatment of neonatal graves
Lugol’s iodine, PTU carbimazole, beta block
Pendred’s syndrome clinically
SLC26A4 gene (pendrin mutation which transports iodine across membrane) AR Vestibular abnormalities, small goitre, learning difficulties
TSH on heelprick at lab measurement higher/lower..
Higher
Hypocalcaemia in digeorge from..
Parathyroid aphasia/hypoplasia
Albright’s hereditary osteodystrophy clinically
Osteomalacia cutis, poor linear growth, TSH resistance and pseudohypoparsthyroidism, cataracts, round face, flat nose, short neck, syndactyly, shortened 3-5 metacarpals, short fat
DDx rickets
Calcium def
Hereditary
X linked hypophosphatemic rickets
X-linked dominant disorder with substantial variable expression - loss of function mutation PHEX ( increased renal excretion Po4
Short
Delayed walking
Rickets
Delayed tooth eruption and increased decay
Causes of hyperpsrathyroidism in children
Primary: Sporadic from adenoma MEN 1, 2A McCune Albright Familial (jaw tumour syndrome)
Familial hypocalciuric hypercalcemia
Inactivsting mutation, AD, asymptomatic with low. Ca/cr clearance
First signs puberty in male and female
Male testicular vol > 3ml and female breast buds (oestrogen action)