Referral Guidelines are peer reviewed guidelines developed to assist referring providers in their approach to a patient presenting with common signs or symptoms suggestive of an endocrine condition, and when to refer to Pediatric Endocrinology.
In utero cystic hygroma
Congenital lymphedema of hands and feet
High arched palate, micrognathia
Short neck, webbed neck, low posterior hair line
Low-set, posteriorly rotated ears
Short 4th metacarpal
Bicuspid aortic valve, coarctation of aorta
Other tests to consider after consultation with Pediatric Endocrinologist:
Bone Age x-ray
TSH, Free T4
Significant patient or family distress.
- Previous growth data/growth charts
- Pertinent medical records
- Recent laboratory and radiologic studies including the bone age film (not just the report)
- Constitutional delay of growth and puberty: Usually height is < target height %
- Hypopituitarism with growth hormone and gonadotropin deficiency
- Isolated SHOX gene mutation
- Noonan’s syndrome
- Hypogonadotropic hypogonadism
o Possible associations: sensorineural hearing loss; anosmia/hyposomia; cleft palate; renal abnormalities
- Isolated Growth Hormone Deficiency
- Chronic disease/ anorexia nervosa
- Other causes of ovarian failure (e.g. autoimmune)
- Mayer- Rokitansky- Kustner-Hauser syndrome
o Mullerian duct agenesis/ congenital absence of the uterus and vaginal hypoplasia
o May have associated renal and vertebral anomalies
TS may occur in as many as 3% of all fetuses and may cause up to 10% of all spontaneous fetal loss.
Prenatal diagnosis is often incorrect, thus confirmatory peripheral blood from the baby is mandatory.
Diagnosis: 20% at birth, 20% childhood short stature, 50% amenorrhea, 10% other.
Up to 30% of girls have some degree of spontaneous puberty, especially high level mosaics.
Elevated lifetime risk for: Hashimoto thyroiditis, Type 1 and Type 2 DM, celiac disease, significant hearing loss, reduced physical fitness, osteopenia, hepatic dysfunction, dyslipidemia, hypertension, aortic dilation and rupture.
Therapy depends on etiology. Prompt work up and treatment is recommended to prevent compromise of adult stature.
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