Developmental Problems Flashcards

Question

What happens in growth hormone deficiency?

Answer 1

Bone age is markly delayed. Laron syndrome - defective GH insemsitivity. High G hormome levels but low levels of the downstream active product of GH known as IGF-1 produced at the growth plate and in the liver. Also rare abn in IGF1 gene.

Answer 2

Usually iatrogenic, corticosteroid therapy- Potent ! growth supressor. In susceptible- lowest dose og inhaled or topical steroid might still affect. Non iatrogenic Cushings- unussual in childhood + may be seen in pituitary or adrenal pathology. Growth F may be severe, usually with Xs wt gain although normalisation of body shape and height occurs on withdrawal of steroid therapy. Cushings during puberty can result in permanent loss of height.

Answer 3

Nutrition- common cause of abnormal growth- short and underweight I.e. Wt is on same or lower centile with height. Poor appetite assc w/ chronic illness, poor diet, or increased nutritional req from raised metabolic rate. Chronic illness: 1. Coeliac -2Y- may - short starture w/o GI sx. 2. Crohns 3. CRF- abscence of hx of renal disease.

Answer 4

Downs Turners Nooan Russell-Silver. Turners hard to diagnose- should be assumeed in ALL short females

Answer 5

``` GH- biosynthetic by SC injection daily. Expensive, specialist centres. Indications: Severe GH deficiency Turners Prader- Willi syndrome, ( early hypotonia + feeding difficulties followed by short starture, obesity + learning diff) CRF SHOX deficiency IUGR ``` GH improves musculature, strenght and body composition + improves final height. Recently- recombinant IGF-1 for GH resistance e.g. Laron syndrome Very expensive tho.

Answer 6

Familial- commonest Obesity- puberty is advanced so final height centile is less than childhood. Secondary: Hyperthyroidism, Xs sex hormones- precocious puberty Xs adrenal androgen steroids- congenital adrenal hyperplasia True gigantism (XS GH secretion) ``` Syndromes: Long-Legged stature: Marfan syndrome Homocystinuria Kleonefelter syndrome (47XXY + XXY karyotype) ``` Proportionate tall stature at birth: Maternal diabetes 1o hyperinsulinism Beckwith symdrome Sotos syndrome- assc w/ large head, facial features, learning difficulties.

Answer 7

Head circumference

Answer 8

``` Head circumference above 98th centile. Tall stature Familial macro encephalopathy ⬆️ICP Hydrocephalus- progressive or arrested Chronic Subdural haematoma Cerebral tumor Neurofibromatosis Cerebral gigantism (Sotos syndrome) CNS storage disorders - mucopolysacxharidosis- Hurler syndrome. ``` Often parents have big heads. Rapid increase, crossing centiles, even if below 98th centile- ICP?? Due to hydrocephalus, subdural haematoma or brain tumour. Inv‼️ ICranial USS if anterior frontanelle still open OR CT/MRI.

Answer 9

Skull assymetry- imbalance of growth rate at coronal, sagittal or lamboid sutures, although head circumference normal. Occipital plagiocephaly- (paralelogram shape head)- flat back of skull parents heard that its better to put them lying on their back to prevent infant death syndrome- so increased frequency. Also seen in hypotonic infants. Preterm infants- long periods in incubators unless soft surface. Not assc with abnormal development.

Answer 10

Sutures finish fully fusing in late childhood. Start in infancy. Premature fusion of one or more sutires ( craniosynostosis) leads to distortion od head shape. Mostly- sagittal- long narrow skull. Confirmed on Xray or CT head. If ⬆️ICP- surgical tx or cosmetic reasons. Craniofacial reconstructive surgery.

Answer 11

Due to premature onset of normal puberty. Central (true PP) precocious puberty in males more often has an organic cause- uncommon E.g. Intracranial tumours. O/E testes- small? Adrenal cause. Bilateral enlargment- gonadotrophin release, usually from intracranial lesion Unilateral enlarged testis suggests gonadal tumour. Tumours in hypothalamic region- BEST investigated by cranial MRI scan.

Answer 12

Detection and tx- intracranial tumor- males Reducing rate of skeletal maturation- assesed by bone age. An early growth sprut may result in eatly cessatiob of growth + reduction in adult height. Males- radiotherapy? Iniection of gonadotropin super agonist. Address psychological/ behavioural difficulties aasc w/ early progression through puberty. Females- consideration.. Is it normal? If central PP- GnRH analogues- tx of choice. In false PP, the extra gonadal source of Xs sex steroids needs to be identified. Inhibitors of androgen or oestrogen production or action - medroxyprogesterone acetate, cyproterone acetate, testolactone.

Answer 13

Multiple cafe-au-lait spots | -!type 1 neurofibromatosis

Answer 14

Constitutional delay of growth and puberty (CDGP)- Familial- Commonest. Low gonadotrophin secretion- hypogonadotropic hypogonadism - Systemic disease--> CF, severe asthma, Crohns D, organ F, anorexia nervosa, starvation, Xs physiacal training. -Hypothalamo-pituitary disorders: --> Panhypopituitarism, isolated gonadotrophin or GH deficiency, Intracranial tumours ( incl craniopharyngioma) , Kallmann syndrome (LHRH deficiency + inability to smell). High gonadotrophin secretion Hypergonadotropic hypogonadism- - chromosomal abnormalitites- Klinefelter syndrome (47XXY), Turner syndrome(45XO) - steroid hormone enzyme deficiencies. - Acuired gonadal damage--> Post-op, chemo, radio, trauma, torsion of testes, autoimmune diosrder.

Answer 15

Glycoprotein polypeptide hormones secreted by gonadotrope cells of anterior pituitary of vertebrates. FSH, LH, (hCG, eCG. Secreted by placenta). They act on gonads(primary target organs of FSH and LH) controlling gamete and sex hormone production. Gonadotrophins (Gn) are released under the control of GnRH from the arcuate nucleus and hypothalamus. LH- stimulates Leydig cells of testes and theca cells of the ovaries to produce testosterone (and indirectly estradiol) , FSH - stimulates spermatogenic cells of testes and the granulosa cells of ovarian follicles as well as stimulatinh estrogen production by ovaries.

Answer 16

Don't guess infants gender- surgical, psychological team.. Sex hormone levels... Commonest: female virilisation from congenital adrenal hyperplasia.

Answer 17

Autosomal recessive disorder of adrenal steroid biosynthesis. Females present with virilisation of the xternal genitalia. Males present with salt loss (80%) or tall stature (20%) and not salt losers or precocious puberty. - ⬆️⬆️ 17a hydroxyprogesterone, confirming CAH ⬇️Na + ⬆️ K, ⬇️HCO3: metabolic acidosis, ⬆️ urea- dehydration. Long term medical treatment- lifelong glucocorticoids, mineralocorticoids/NaCl if salt loss. Additional corticosteroids to cover chronic illness or surgery. Salt losing adrenal crisis- needs ‼️ URGENT treatment w/ hydrocortisone, dextrose(glucose) ,saline IV. Monitor growth, skeletal maturity, plsama androgens and 17a- hydroxyprogesterone. F: corrective surgery for clitoromegaly before 1Y and vaginoplasty at puberty, bedore sexual intercourse. So oral hydrocortisone, and flurocortisone (mineral) replacemnt therapy amd oral salt replacement- NaCl. Surgery- reduce clitpric size and separate labia. Karyotyoe and USS( uterus and ovaries?) required !