Genetic Disorders with Endocrine Implications
We are part of multidisciplinary groups providing comprehensive care for patients with Turner syndrome, Klinefelter syndrome and Williams syndrome, and serve as consultants for patients with Down syndrome, Prader-Willi syndrome and other genetic conditions with endocrine implications.
We treat short stature and/or endocrine disorders in genetic conditions such as:
- Turner syndrome
- Klinefelter syndrome
- Kallman syndrome and other genetic conditions causing hypogonadotropic hypogonadism
- Genetic conditions causing differences of sexual development
- Genetic conditions causing hypopituitarism or predisposing patients to develop pituitary tumors
- Carney complex
- Multiple endocrine neoplasia 1 and 2
- Polyglandular autoimmune syndromes
- McCune Albright syndrome
- Familial male limited precocious puberty
- Congenital adrenal hyperplasia
- Muscular dystrophy (Duchenne’s muscular dystrophy and spinal muscular atrophy)
- Osteogenesis imperfecta and other genetic conditions involving bone
- Genetic conditions involving calcium and phosphorus metabolism
- Williams syndrome
- 2 deletion syndrome
- Down syndrome
- Prader-Willi syndrome
- Silver-Russell syndrome
- Noonan syndrome
- Cystic fibrosis related diabetes
- Maturity Onset Diabetes of the Young (MODY)
- Genetic causes of obesity
- Hyperinsulinemic hypoglycemia of infancy