Phenotype #0000300216

Individual ID 00408088
Associated disease -
Phenotype details 9 years old boy with small testicles, micropenis, and right-side undescended testes that required orchidopexy at age of 4 years. His endocrine work up showed pre-pubertal gonadotropins and testosterone level. His parents were cousins and he had a similarly affected brother and healthy brother and sister.
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite 5 alpha reductase deficiency
Age/Examination 9y (9 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-13 19:19:00 +02:00 (CEST)
Date last edited N/A

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