Review
Copyright ©The Author(s) 2024.
World J Clin Pediatr. Jun 9, 2024; 13(2): 89224
Published online Jun 9, 2024. doi: 10.5409/wjcp.v13.i2.89224
Table 1 The causes of Microphallus and Micropenis
Factor

Description
GeneticsSpecific genes mutationsGenes related to testosterone production and androgen receptor function. Genes associated with the genital tubercle development
AIS
Genetic deficiencies in Enzymes Involved in Hormone Production e.g., 5 alpha-reductase deficiency
Genetic abnormalities affecting hormonal signalling
Genetic disorders affecting pituitary gland function
Genetic causes of congenital adrenal hyperplasia (deficiency in steroidogenic acute regulatory protein (STAR gene mutation), 3 beta-hydroxysteroid dehydrogenases (salt-wasting, non-salt-wasting, and non-classic types), 17 α-hydroxylase (mutations in the CYP17A1 gene located on chromosome 10q24-q25)
Chromosomal Abnormalities e.g., Klinefelter syndrome (XXY), Trisomy of the chromosomes 8, 13, 18 or 21
Inherited syndromesBardet-Biedl syndrome, Prader-Willi syndrome and Kallman syndrome (hypogonadotropic hypogonadism, osteoporosis, hearing impairment, and anosmia). Noonan syndrome (hypertelorism, short neck, low-set ears, skeletal malformation, bleeding disorders, and pulmonary valve stenosis). Others: Charge syndrome, Silver Russel syndrome, Rud syndrome
Hormonal and endocrinal causesPrimary Hypogonadism: Either congenital or acquired ‎ e.g., Anorchia, Klinefelter and poly-X syndromes, gonadal dysgenesis (incomplete form), luteinizing hormone receptor defect (incomplete form), testosterone steroidogenesis (incomplete form), Noonan syndrome, Trisomy 21, Robinow syndrome, Bardet-Biedl syndrome, Laurence-Moon syndrome
Secondary Hypogonadism: Secondary to pituitary gland or hypothalamus disorders, resulting in decreased ‎secretion of luteinizing hormone and follicle-stimulating hormone ‎
AIS
Enzyme deficiencies affect testosterone synthesis or its conversion to the more ‎potent dihydrotestosterone
Growth hormone deficiency or abnormalities in IGF-1 ‎
Hypothyroidism
Adrenal gland disorders ‎ such as adrenal hyperplasia
Anatomical and structural abnormalitiesPenis agenesis, cloacal dystrophy, hypospadias or chordee, Peyronie's disease, corpus cavernosa and corpus spongiosum hypoplasia, vascular abnormalities, ligaments or connective tissue abnormalities, and inadequate penile shaft length
Environmental factorsAntenatal exposureEndocrine-disrupting chemicals, including phthalates, bisphenol A, and ‎certain pesticides
Anti-androgenic drugs
Maternal substance abuse, including alcohol, drugs, or tobacco
Ionizing radiation
Antenatal infections
Inadequate nutrition and a poor maternal diet ‎
Pollutant exposure such as heavy metals and dioxins.
Antenatal exposure of antifungal
Postnatal exposureImproper or excessive use of antibiotics or hormonal medications
Hormonal treatments for conditions like precocious puberty or delayed puberty‎
Surgical interventions or treatments for disorders affecting the genitalia ‎
IdiopathicUnknown cause