Neonatal conference Brandau Flashcards
normal glucose in a newborn
anything over 40 is fine
what does our body do when glucose gets low?
- Glycogenolysis
2. (24 hours out) gluconeogenesis
umbilical cord should have how many vessels?
3- a vein and 2 arteries.
a 2-vessel cord suggests the need to consider other deformities
The 2 Vessel Umbilical Cord
Typically called single umbilical artery
Rare condition with incidence of less than .5%
When there is a single umbilical artery (usually the left artery) the incidence of congenital defects is high at nearly 25%
In the case of a single umbilical artery the infant should have a screening ultrasound of the abdomen and kidneys
Differential Diagnosis for Persistent Hypoglycemia
Prematurity Intrauterine growth retardation (IUGR) Infant of diabetic mother Hypothermia Perinatal asphyxia Sepsis Disorders of gluconeogenesis/glycogenolysis Hyperinsulinism Primary and secondary adrenal insufficiency Congenital hypopituitarism
Genetic Syndromes Associated with Micropenis
Smith-Lemli-Opitz syndrome
Kallmann syndrome
Prader-Willi syndrome
Smith-Lemli-Opitz Syndrome
Abnormalities include
Microcephaly, low set ears, micrognathia
Genital abnormalities occur 70% of the time and include, cryptoorchism, micropenis, hypoplastic scrotum
Cardiac defects 50% of the time most commonly endocardial defects
Kallmann Syndrome
a form of hypogonadotropic hypogonadism (HH), which is a condition affecting the production of hormones that direct sexual development.
Males with hypogonadotropic hypogonadism are often born with an unusually small penis (micropenis) and undescended testes (cryptorchidism). At puberty, most affected individuals do not develop secondary sex characteristics, such as the growth of facial hair and deepening of the voice in males. Affected females usually do not begin menstruating at puberty and have little or no breast development. In some people, puberty is incomplete or delayed.
Also patients have loss of the sense of smell.
features vary: unilateral renal agenesis, cleft palate, eye mvmt problems, hearing loss, abnormal teeth. Some bimanual synkinesis
Prader-Willi Syndrome
Most common form of syndromic obesity (1 in 15,000 live births)
Characterized at birth by hypotonia, failure to thrive, feeding difficulties, hypogonadism and developmental delays
At approximately 2 years of age hyperphagia and obesity are noted with growth hormone deficiency, short stature, small hands and feet, behavioral problems and characteristic facial features
Criteria for Diagnosis of PWS
Major: neonatal central hypotonia infantile feeding problems/ FTT rapid weight gain between 1-6 years characteristic facial features hypogonadism: genitalia hypoplasia/ pubertal deficiency mental retardation developmental delay decreased fetal movement infantile lethargy
minor criteria: behavioral problems sleep disturbance/ sleep apnea short stature by age 15 years hypopigmentation small hands/ or feet for height age eye abnormalities: esotropia thick viscous saliva speech and articulation defect skin picking
Common Endocrine Causes of Micropenis in the Newborn
Hypogonadotrophic hypogonadism secondary to pituitary and hypothalamic lesions
Primary testicular failure
Apparent micropenis secondary to virilization of female external genitalia secondary to 21α-hydroxylase and 11β-hydroxylase deficiency
evidence of hypogonadism (micropenis) and hypoglycemia (most likely modified by cortisol) would suggest
a hypopituitary state
Congenital Hypopituitarism
Incidence is between 1:4,000 and 1:10,000 births
Results from genetic defects in genes controlling transcription factors involved in differentiation of the anterior pituitary
Clinical Manifestations Depend on Which Hormones are Deficient
Severe prenatal GH deficiency occurs but has little effect on fetal growth that is dependent on insulin, insulin growth factor 1 and 2 but can present as micropenis, especially if gonadotropins are decreased as well.
GH deficient in the newborn may include hypoglycemia and exaggerated jaundice with both direct and indirect bilirubin
LH and FSH deficiency in the newborn male can present as micropenis, testicular hypoplasia and undescended testes
ACTH deficiency is almost always associated with cortisol deficiency resulting in hypoglycemia
ACTH deficiency does not result in aldosterone deficiency hence there is no salt wasting or hyperkalemia
The manifestations of TSH deficiency are similar to those of congenital hypothyroidism
Large fontanelle Lethargy Constipation Hoarse cry Hypotonia Hypothermia Jaundice
