Anamnesis in Patients with Micropenis
A comprehensive history for a patient with micropenis must systematically evaluate endocrine function, developmental milestones, family history, and associated congenital anomalies to determine the underlying etiology and guide appropriate hormonal or surgical management.
Essential Historical Components
Birth and Neonatal History
- Gestational age and birth weight: Prematurity and intrauterine growth restriction may be associated with micropenis 1
- Timing of diagnosis: Whether micropenis was identified at birth or later, as early diagnosis (ideally in the first months of life) is critical for optimal management 2
- Neonatal complications: History of hypoglycemia, prolonged jaundice, or seizures may suggest hypopituitarism 1
Growth and Development
- Growth velocity: This is a crucial determinant of associated hypothalamic or pituitary pathology, as poor growth may indicate growth hormone deficiency or combined pituitary hormone deficiencies 1
- Developmental milestones: Detailed assessment to identify developmental delays that may accompany syndromic causes of micropenis 3
- Pubertal development: In older children, assess timing and progression of secondary sexual characteristics 4
Associated Genitourinary Abnormalities
- Cryptorchidism: Presence of undescended testes suggests possible disorders of sex development (DSD) or gonadal dysgenesis 3, 4
- Hypospadias or incomplete scrotal fusion: These findings are highly suggestive of DSD and require urgent evaluation 3, 4
- Urinary symptoms: Assess for dribbling, dysuria, frequency, or difficulty with urination 3
Endocrine and Syndromic Features
- Midline defects: History of cleft lip/palate, single central incisor, or visual problems may indicate septo-optic dysplasia or other hypothalamic-pituitary disorders 1
- Anosmia or hyposmia: Suggests Kallmann syndrome (hypogonadotropic hypogonadism with olfactory defects) 1
- Dysmorphic features: Document any features suggestive of genetic syndromes associated with hypogonadotropic hypogonadism (e.g., Prader-Willi syndrome, CHARGE syndrome) 1, 4
Family History
- Consanguinity: Increases risk of autosomal recessive disorders affecting testosterone biosynthesis or action 4
- Family history of micropenis, cryptorchidism, or infertility: May suggest inherited disorders of gonadal development or androgen synthesis 1
- Maternal virilization during pregnancy: Could indicate androgen insensitivity 4
- Neonatal deaths or ambiguous genitalia in siblings: Raises concern for DSD or congenital adrenal hyperplasia 3
Medication and Exposure History
- Maternal medication use during pregnancy: Particularly anti-androgens or medications affecting testosterone production 4
- Previous hormonal treatments: Document any prior testosterone or other hormonal therapy, including dosage, duration, and response 1, 2
Psychosocial Assessment
- Gender identity and behavior: Particularly important in older children to assess male gender identity and psychosocial functioning 5
- Family concerns and expectations: Understanding parental anxiety and expectations is essential for counseling and treatment planning 2, 6
- Sexual function in adolescents/adults: For post-pubertal patients, assess erectile function, libido, and sexual activity 5
Critical Pitfalls to Avoid
Do not confuse micropenis with buried/hidden penis or webbed penis, which are anatomically different conditions requiring different management 1, 4. A buried penis has normal penile length when measured after releasing entrapped penile shaft from surrounding tissue.
Always measure stretched penile length using standardized technique rather than relying on visual inspection alone, and compare to age-appropriate normograms 1, 4. The threshold for evaluation is SPL <2 cm at birth and <4 cm after 5 years of age 4.
In any patient with bilateral nonpalpable testes and micropenis, immediately consider DSD and do not proceed with circumcision until evaluation is complete, as this could represent a virilized genetic female with congenital adrenal hyperplasia 3.