Adiposogenital dystrophy differential diagnosis

Partial destruction of hypothalamic nuclei resulting in hormonal dysfunction with obesity, growth retardation, and hypogonadism. Deep brain stimulation may also cause symptoms similar to adiposogenital syndrome ^{[1] [2]}.

Prevalence is unknown, but it is more common in males ^{[3] [4]}

Diagnosis is based on visual field tests, hormonal assays, CT, MRI, autoimmune assays

• Diet and exercise
• Radiation
• Surgery, thermoablation, radiosurgery
• Hormone replacement^[5]

It presents with hyperphagia, hypogonadism, truncal obesity, intellectual disability, growth delay, hypotonia, almond-shaped palpebral fissures, narrow frontal diameter, thin upper vermilion with downturned corners of the mouth behavioral problems such as anxiety and temper outbursts ^[6]

Prader Willi Syndrome has a prevalence of 1 in every 1 in 20000 to 1 in 30000 births^[7]. Females and males can be equally affected, and there is no difference between races and ethnicities^[8]. Most cases of Prader Willi syndrome are sporadic, but familial cases can present when the paternal genes carry a microdeletion in the imprinting center inherited from his mother^[9].

• Molecular testing for DNA methylation
• Fluorescence In Situ Hybridization to investigate 15q11-q13
• Chromosomal microarray to determine presence of maternal disomy^[9].

• Hormone replacement^[10]
• Cognitive and behavioral therapy^[11]

• Visual impairment
• Polydactyly, brachydactyly or syndactyly
• Obesity
• Renal and genital abnormalities
• Neurological and mental deficits such as learning difficulties developmental delay, speech deficit, ataxia
• Diabetes mellitus
• Congenital heart disease

• It is a rare autosomal recessive genetic disorder. ^[12]. Males and females are affected equally^[13].
• Increased in the Arab population of Kuwait at a prevalence of approximately 1:13500^[14]

• Bardet–Biedl syndrome mutations can be diagnosed by genomic sequencing which would show the coding regions of the genes implicated in causing the disease^[15].

• Treatment is symptomatic with focus on managing co=morbidities especially diabetes, hypertension, and obesity ^[16].

• Gynecomastia
• Azoospermia and infertility
• Dyslipidemia
• Obesity
• Increased risk for osteoporosis, autoimmune diseases and neoplasia
• Impaired social skills
• Insulin resistance

• It is the most common chromosomal disorder in males with about 1:500 to 1:650 affected. ^{[17] [18]}.

• Klinefelter syndrome can be definitively diagnosed by chromosomal karyotyping ^[17]

• It is treated by testosterone replacement therapy^[17].

• Visual impairment
• Intellectual disability
• Polyneuropathy
• Epilepsy
• Cleft palate
• Obesity
• Gynecomastia

• It is a rare X-linked recessive genetic disorder.
• Females rarely show symptoms or have mild symptom

• Diagnosis is confirmed by the identification of a PHF6 mutation^[19].

• Surgery for cleft palate and cryptorchidism
• Medication can help with epilepsy