An obese adolescent with short stature and hyperphagia is diagnosed with hypogonadism. Which congenital disorder is most likely?

An obese adolescent with short stature and hyperphagia is diagnosed with hypogonadism. Which congenital disorder is most likely?

• A. Prader-Willi syndrome
• B. Alström syndrome
• C. Laurence-Moon-Biedl syndrome
• D. Pseudohypoparathyroidism

Answer: (A)

Hyperphagia with obesity and hypogonadism in an obese adolescent points to Prader-Willi syndrome, a congenital genetic imprinting disorder due to loss of expression of paternal genes on chromosome 15q11-q13. Infants with this condition are typically hypotonic and have poor feeding, but through childhood they develop an insatiable appetite and rapid weight gain. Hypogonadism is common, contributing to short stature and delayed or incomplete puberty. Other syndromes like those with retinal dystrophy and multiple anomalies or endocrine resistance without the hallmark insatiable hunger don’t fit as well. Thus, this combination of early hypotonia followed by hyperphagia-driven obesity and hypogonadism best matches Prader-Willi syndrome.

Hyperphagia with obesity and hypogonadism in an obese adolescent points to Prader-Willi syndrome, a congenital genetic imprinting disorder due to loss of expression of paternal genes on chromosome 15q11-q13. Infants with this condition are typically hypotonic and have poor feeding, but through childhood they develop an insatiable appetite and rapid weight gain. Hypogonadism is common, contributing to short stature and delayed or incomplete puberty. Other syndromes like those with retinal dystrophy and multiple anomalies or endocrine resistance without the hallmark insatiable hunger don’t fit as well. Thus, this combination of early hypotonia followed by hyperphagia-driven obesity and hypogonadism best matches Prader-Willi syndrome.