Discussion 
Congenital adrenal hyperplasia (CAH) is a group of inherited disorders that are present at birth where the adrenal glands are hyperplastic, most commonly resulting from mutations or deletions of CYP21A. In CAH, the body is missing an enzyme that stimulates the adrenal gland to release cortisol. Disease severity and phenotypic presentation vary depending on the location and extent of gene mutations or deletions, which lead to complex allelic variations. Almost 300 CYP21A2 mutations have been identified, making genotyping these individuals a cumbersome undertaking. CAH can be seen as a continuum from salt wasting to mild forms but is divided into two categories for convenience: classical approximately 67% (“salt-losing,” severe, ex-congenital), and nonclassical approximately 33% (“non-salt-losing” or “simple-virilizing,” less severe, formerly known as late-onset or cryptic) according to the degree of aldosterone deficiency  Patients with classic CAH may present as simple virilizing CAH or salt-wasting CAH and are usually diagnosed in infancy while patients with non-classical  CAH may be asymptomatic or present with a milder form of virilization postnatally. [5] CYP21, found on chromosome 6p, near the human leukocyte antigen gene cluster, is the gene for adrenal 21-hydroxylase. Specific mutations may be linked to a degree of enzymatic dysfunction and the clinical manifestation of 21-hydroxylase insufficiency. Minor mutations on both alleles of the 21-hydroxylase gene are found in patients with non-classic forms [6] A retrospective cohort study conducted by Gidlöf et al. in Sweden found the CYP21A2 genotype in 81% of the patients, reflecting improved diagnostic usage of genetic studies. [7] The infant we are reporting was diagnosed solely based on clinical findings and laboratory values. Due to financial constraints and resource availability, genetic studies could not be conducted in our case.
It is shown that up to 29.3% of CAH patients had adrenal tumors. Abdominal ultrasound is the modality of choice for small-sized pediatric patients due to the lack of ionizing radiation, lower cost than cross-sectional imaging, and extensive availability. [8] In our situation, the ultrasound of the infant resulted in the adrenal glands being normal, ruling out the likelihood of an adrenal tumor.
Symptoms of Jacobs syndrome may be quite vague during childhood, and for this reason, most children go undiagnosed. However, Men with Jacobs syndrome who do display symptoms are most likely to exhibit tall stature and macrocephaly. Developmental delays and behavioral issues have been noted, as well as atonia, clinodactyly (medial curvature of a digit, i.e., 5th finger toward the 4th), and hypertelorism. The incidence of asthma and autism spectrum disorder also appears to be increased in these individuals. [9] other conditions such as Marfan syndrome and Sotos syndrome should be ruled out, in contrast to Jacobs syndrome, Marfan syndrome often presents with cardiac abnormalities such as aortic root dilatation and mitral valve prolapse. Sotos syndrome, also known as cerebral gigantism, is a rare genetic condition caused by a mutation in the NSD1 gene. Hallmark features include excessive growth during childhood, macrocephaly, learning disabilities, hypotonia, and seizure disorders. [10] Our patient had none of them.
Patients with Jacobs syndrome have been found to have an increased incidence of certain diseases. These include asthma, seizure disorders, and tremors. Some 47, XYY patients have been noted to have genitourinary abnormalities such as microphallus, hypoplastic scrotum, cryptorchidism, and hypospadias. These patients are also at an increased risk for learning disabilities, ADHD, autism spectrum disorder, and speech difficulties. [11]
The diagnosis of both CAH and Jacobs syndrome can be done prenatally with amniocentesis or chorionic villus sampling, and treatment involves dexamethasone administered at or before 10 weeks of gestation. A study conducted by Carlson et al. found that prenatal diagnosis and therapy of 21-hydroxylase deficiency is safe and effective in lowering or eliminating virilization in the affected female, sparing the newborn female the repercussions of genital ambiguity, sex misassignment, and gender confusion. [12] However, in our case, the mother did not undergo routine antenatal visits during the pregnancy leading to the failure of antenatal diagnosis of CAH as well as Jacob syndrome.
There is no treatment for XYY syndrome. The treatment option is generally only supportive, with attention given to the comorbidities of the patient. While medication cannot treat XYY syndrome, some medications can be used to treat conditions related to the syndrome. A person with XYY syndrome can get help with any learning or developmental delays through speech therapy, occupational therapy, or other assistance. Therapy can also help with ADD/ADHD, social interactions, and other behavioral problems. While The treatment for CAH is based on replacing normal glucocorticoid and mineralocorticoid needs, as well as psychological support [13,14] The patient is currently receiving hydrocortisone. The parents of the infant were counseled about the need for genital surgery and psychological support.