What is an infant at risk for if it has a 2 vessel umbilical cord (single umbilicl artery)
other congenital defects
If an infant hs a single ubilical artery, ultrasound should be used to screen what area of the body?
Abdomen and Kidneys
Prematurity, intrauterine growth retardation, perinatal asphyxia, and Sepsis can cause persistent hypoglycemia in infants. What are some other causes in infants? (x6)
1. infant of diabetic mother
3. disorders of gluconeogenesis/glycogenolysis
5. primary and secndary adrenal insufficiency
6. congenital hypopituitarism
What are genetic syndromes associated with a micropenis? (x3)
Prader - willi syndrome
An infant presents with microcephaly, low set ears, and micrognathia. In addition to being concerned about the Cardiac defects that appear 50% of the time as endocardial defects, what other abnormality occur in this syndrome 70% of the time?
- What is this syndrome?
- Genital abnormalities (cryptoorchism, micropenis, hypoplastic scrotum) occur 70% of the time
- Smith lemli opitz syndrome
What syndrome does this baby have?
What defects do these pictures show?
- Smith Lemli opitz syndrome
- micropenis, low set ears, microcephaly, Mandibular hypoplasia (micrognathia)
A patient has presented to you with loss of the sense of smell. He has an unusually small penis with undescended testes.
Another patient presents with a history of no menstruations at puberty and no breast development and has also lost her sense of smell.
What syndrome do both of these patients probably have?
What causes this condition?
what is another name for it?
- Kallmann syndrome
- decreased production of hormones that direct sexual development (testosterone, LH, FSH)
- hypogonadotropic hypogonadism
In addition to the hearing loss, what can happen to the kidneys, mouth, and limb coordination of a patient with Kallmann syndrome?
- unilateral renal agenesis
- Cleft palate
- Bimanual synkinesis (movement of one hand mirrors the other)
1. What syndrome does this child have?
2. At birth what characterized this child and indicated he had the syndrome he currently suffers from? (x5)
1. Prader-Willi syndrome
2. He likely had hypotonia, failure to thrive, feeding difficulties, hypogonadism, developmental delays
Prader willi syndrome is the most common form of what disorder?
Around the age of 2 patients with prader willi syndrome will with behavioral problems, and characteristic facial features.
What are the two recognizable signs that appear at this time?
A deficiency in what hormone is also noted?
- Hyperphagia and Obesity
- Growth hormone resulting in short stature and small hands/feet
What are three common endocrine causes of Micropenis in newborn?
1. Hypogonadotrophic hypogonadism secondary to pituitary and hypothalamic lesions
2. Primary testicular failure
3. Apparent micropenis secondary to virilization of female exterinal genetalia secondary to 21alph hydroxylase and 11beta hydroxylase deficiency
Congenital Hypopituitarism is caused by genetic defects controlling transcription factors for what?
differentiation of anterior pituitary
GH deficiency in congenital hypopituitarism has little effect on fetal growth that is dependent on what 3 molecules?
- Insulin, IGF-1, IGF-2
GH deficiency in newborns can include what metabolic disturbance, and what breakdown products to accumulate? (2 answers)
- Jaundice of direct or indirect bilirubin
LH andFSH deficiency in newborn males can present with what 3 things?
2. testicular hypoplasia
3. undescended testes
ACTH deficiency is almost always associated with cortisol deficiency resulting in what metabolic deficit?
How does ACTH deficiency affect aldosterone levels?
It doesn't, hence there is no salt wasting or hyperkalemia
Manifestation of TSH deficiency are similar to those of congenital hypothyroidism. What are they? (x7)
- Large fontanelle
- Hoarse cry
Causes of congenital hypopituitarism (x9)
- Head injury
- Radiographic therapy