SNP Shot: Genomic Insights

Cytochrome P450 oxidoreductase deficiency (CORD) disrupts hormone production, specifically affecting steroid hormones vital for normal development and reproduction. The resulting hormonal imbalances can impact the development of the reproductive system, skeleton, and other body parts. These effects are typically noticeable at birth or in early childhood.

The severity of CORD varies, leading to a range of signs and symptoms. Mild cases may involve the absence of menstruation by age 16 (primary amenorrhea), infertility in both sexes, and polycystic ovarian syndrome (PCOS). PCOS involves a hormonal imbalance in women, causing irregular periods, acne, excessive hair growth (hirsutism), and weight gain.

Individuals with moderate CORD may present with ambiguous genitalia and infertility. Skeletal abnormalities are typically absent in these moderate cases.

The severe form of CORD is sometimes referred to as Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis. The hormonal disruptions in severely affected individuals of both sexes cause ambiguous genitalia or other genital defects, along with infertility. Skeletal abnormalities are also characteristic of severe cases, especially affecting the head and face. These include premature fusion of skull bones (craniosynostosis), a flattened midface, a prominent forehead, and low-set ears. Other possible skeletal issues include joint contractures limiting movement, unusually long, slender fingers (arachnodactyly), bowed thigh bones, and radiohumeral synostosis (elbows locked in a bent position). Furthermore, nasal passage blockage (choanal atresia), intellectual disability, and developmental delays can occur.

Pregnant women carrying fetuses with CORD may experience mild symptoms of the disorder themselves, even without having CORD. These symptoms can include excessive hair growth (hirsutism), acne, and a deepened voice, which resolve shortly after childbirth.

Inheritance:

CORD is an autosomal recessive disorder. This means that to inherit the condition, an individual must inherit a mutated copy of the responsible gene from each parent. The parents, each carrying one copy of the mutated gene, typically do not exhibit symptoms of the condition.