Endocrinology

Question 1

Natural History of 5 alpha reductase deficiency

Answer 1

• at birth, no conversion of T to DHT, therefore normal male internal genitalia, and ambiguous external genitalia
• at puberty, T in charge therefore normal spermatogenesis and male pubertal development

Question 2

Clinical Features of Smith-Lemli-Opitz

Answer 2

Due to low plasma cholesterol and accumulation of precursors
- ambiguous genitalia in males (normal females)
- cardiac defects (AVSD, ASD, PDA, VSD)
- 2-3 toe syndactyly
- post-axial polydactyly
- severe cognitive impairment
- growth restriction
- microcephaly
- ptosis
- anteverted nares
- broad alveolar ridge

Question 3

Correction of Na for Glucose

Answer 3

Corrected Na = measured Na + ((glucose-5)x0.3)