All of the following may occur in Noonan syndrome except:
**Core Concept**
Noonan syndrome is a genetic disorder characterized by a constellation of clinical features, including congenital heart defects, short stature, distinctive facial features, and developmental delays. It is caused by mutations in several genes, most commonly PTPN11, SOS1, RAF1, and NRAS. The disorder is inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is sufficient to cause the condition.
**Why the Correct Answer is Right**
Infertility in females is not a characteristic feature of Noonan syndrome. In fact, most individuals with Noonan syndrome have a normal reproductive life span and can conceive without difficulty. The disorder can, however, affect male fertility, with some individuals experiencing delayed or decreased sperm production. The correct answer is an exception to the typical features of Noonan syndrome.
**Why Each Wrong Option is Incorrect**
**Option A:** Hypertrophic cardiomyopathy is a common cardiac defect associated with Noonan syndrome. Individuals with the disorder have an increased risk of developing hypertrophic cardiomyopathy, which can lead to heart failure and sudden death. This option is a characteristic feature of Noonan syndrome.
**Option B:** Cryptorchidism is a common feature of Noonan syndrome. Individuals with the disorder often experience undescended testes, which can increase the risk of testicular cancer and infertility. This option is a characteristic feature of Noonan syndrome.
**Option D:** Autosomal dominant transmission is the inheritance pattern of Noonan syndrome. The disorder is caused by mutations in several genes, and a single copy of the mutated gene is sufficient to cause the condition. This option is a characteristic feature of Noonan syndrome.
**Clinical Pearl / High-Yield Fact**
Noonan syndrome is often mistaken for Turner syndrome, due to the similarities in facial features and developmental delays. However, individuals with Noonan syndrome typically have a normal karyotype, unlike those with Turner syndrome who have a 45,X karyotype.
**Correct Answer:**
β Correct Answer: C. Infertility in females