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Maria New, M.D.

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Dr. Maria New

Ensuring that all children have the chance to achieve their full potential for a healthy life free fromdisease or disability is at the heart of NICHD's mission. The First Grantee series, launched for the Institute's 50th anniversary in 2012, demonstrates how investigators have helped NICHD achieve its mission through innovative research examining a wide range of topics from diverse disciplines. This story features the life and work of Dr. Maria New, a pioneer in the field of endocrinology.

Dr. New's Journey

When Maria New entered Cornell University in 1946, she decided that studying music was not the best path for her, even though her parents were musicians and she had been surrounded by music throughout her childhood. She chose chemistry instead, little knowing that her decision would take her on a remarkable journey of scientific discovery and groundbreaking clinical care.

The NICHD First Grantees Series

Ensuring that all children have the chance to achieve their full potential for a healthy life free from disease or disability is at the heart of the NICHD's mission.

This profile of Dr. Maria New is part of a series of stories about the first investigators to receive research grants from the NICHD. These stories demonstrate how investigators have helped the NICHD achieve its mission through innovative research examining a wide range of topics from diverse disciplines.

For more than 40 years, Dr. New and her colleagues have focused on the inextricable links between basic science and clinical care. Dr. New's detailed studies of the hormonal, molecular, and genetic basis of several devastating conditions have led to a clear understanding of these conditions and to prevention and treatment options. At 83 years old, she is still actively engaged in research and patient care, a testimony to her lifelong commitment to research and children's health. Currently, Dr. New is a professor and director of the Adrenal Steroid Disorders Program at Mount Sinai School of Medicine.

Read more about Dr. New's journey by selecting a link below.

The Road to Research

Though her chemistry studies at Cornell consumed much of her attention, Dr. New found time for other academic and personal pursuits, including minoring in Latin and getting married. After graduation, she and her husband went to the University of Pennsylvania Medical School—the first married couple to be admitted together to a medical school in the United States. Following medical school, Dr. New interned at Bellevue Hospital in New York and decided to specialize in pediatrics with a focus on genetics.

Her long and productive association with the NIH began in 1957, during her residency at New York Hospital, when she was awarded an extramural NIH fellowship to conduct research in biochemistry and renal function in the Department of Pediatrics at the New York Hospital-Cornell Medical Center. After completing the fellowship, she became the research pediatrician for the Diabetic Study Group of the Comprehensive Care Teaching Program at the New York Hospital-Cornell Medical Center.

A second NIH fellowship at the New York Hospital-Cornell Medical Center followed in 1961. Under the mentorship of noted endocrinologist Dr. Ralph Peterson, Dr. New began to concentrate on steroid synthesis and metabolism, which laid the groundwork for her subsequent research and discoveries. Her first NIH grant, received in 1963, focused on the metabolism of androgen (the male sex hormone) in children.

At the time, little was known about steroid synthesis and metabolism in children, and studying these hormones was a challenge because the techniques for measuring and analyzing them were difficult and labor-intensive. Mastering these techniques gave Dr. New the solid grounding in steroid research that she needed for her later work.


Congenital Adrenal Hyperplasia: Then and Now

Following her fellowship with Dr. Peterson, Dr. New was appointed chief of pediatric endocrinology at Cornell University Medical College, a position she held from 1964 to 2002. During these years, under a continuing series of grants from NICHD, she and her colleagues focused on a disorder of the adrenal gland called congenital adrenal hyperplasia (CAH; read more about the hormones affected in this disorder at Understanding the Adrenal Glands). Girls born with this disorder have genitals resembling those of boys, although they have normal female organs internally. Boys with CAH have no obvious physical symptoms at birth, but they mature rapidly and begin to show signs of puberty at an early age. Both boys and girls have excessive facial and body hair, grow quickly, and reach physical maturity before their peers. However, they stop growing before their peers and remain relatively short as adults. Other symptoms include infertility and acne. Some people with CAH develop persistent high blood pressure beginning at an early age or "salt wasting," a condition in which the balance of sodium and potassium in the body is disrupted, leading to low sodium levels, high potassium, dehydration, and dangerously low blood pressure.

Three key problems faced Dr. New and her fellow investigators:

  • How do we describe this disorder?
  • How do we diagnose this disorder?
  • How do we treat, or even prevent, this disorder?

Meticulous science that took advantage of rapid advances in genetics, molecular biology, endocrinology, and clinical care helped answer all three questions.

Defining the Condition

Based on examinations of many children with symptoms and their families, as well as detailed molecular biology studies, Dr. New and colleagues gradually established a clinical picture of the disorder. CAH has three major forms, each of which results from a deficiency in 21-hydroxylase, an enzyme necessary for the normal production of adrenal hormones. About two-thirds of "classical" cases are "salt wasting," as a result of low aldosterone levels and high androgen levels. The other one-third are "simple virilizing" because of high androgen levels alone, which results in the pronounced masculine characteristics in both boys and girls. "Non-classical" CAH is a milder form with less pronounced symptoms. About one in 13,000 to 15,000 children is born with classical CAH; non-classical CAH occurs in one in 30 Ashkenazi Jews and in one in 100 people in a mixed Caucasian population. Non-classical CAH may well be the most common autosomal recessive disorder in humans.

Because CAH is a congenital disease, understanding and explaining its genetic characteristics was critical in describing it. Dr. New first taught herself the techniques of molecular genetic analysis. Then, over the course of many studies, she and her colleagues mapped the location of the faulty gene that results in the 21-hydroxylase deficiency and discovered a number of different mutations of the gene that explain the spectrum of clinical manifestations found in CAH. Now, Dr. New is collaborating with an Irish investigator who is studying how the genetic mutation in CAH affects the structure of the 21-hydroxylase enzyme. Results from this research will help investigators understand even more precisely the relationship between the genetics and the clinical characteristics of CAH. Dr. New also is working on a paper that will detail the frequency of the various mutations in people with CAH by physical characteristics, sex, and race/ethnicity.

As Technology Shifts, So Does Diagnosis

After describing CAH, the next major challenge was diagnosing it. At the beginning of her research career, Dr. New had to rely on hormonal studies to confirm a diagnosis of CAH. This gradually changed with the advent of sophisticated molecular genetics techniques. Now, genetic tests are routinely used along with hormonal analyses to diagnose CAH.

The timing of diagnosis is critical. The earlier CAH is diagnosed, the earlier treatment can begin. Treatment is relatively straightforward for boys: Replace the missing adrenal hormones with lifelong medication, and symptoms are reduced or eliminated. It is more complicated for girls because, in addition to hormone therapy, they must have surgery in early childhood to correct their genital abnormalities. This surgery is difficult and can have serious psychological aftereffects.

Advances Toward Treatment

In the early 1980s, Dr. New pioneered a major advance by developing prenatal treatment of affected females with the glucocorticoid hormone dexamethasone. Treatment begun before the 10th week of gestation prevents the development of genital abnormalities.

Until recently, however, a diagnosis of CAH and determination of the sex of the fetus depended on amniocentesis or chorionic villus sampling, tests that cannot be performed until after the 11th week of gestation. This meant that to treat affected females, doctors also had to treat some male fetuses and unaffected female fetuses. Dr. New is now collaborating with Dr. Dennis Lo, a Chinese investigator who has developed a technique for extracting fetal DNA from the mother's blood at the seventh week of gestation. If this technique can be used to diagnose CAH, the clinical implications could be profound. Not only might it be possible to precisely target treatment to only affected females, but the much simpler blood test would make diagnosis and treatment possible for many more girls and boys around the world who are affected by CAH.


Other Pioneering Advances

Dr. New's research in steroid metabolism has not been limited to the study of CAH. In 1977, she and her colleagues discovered apparent mineralocorticoid excess (AME), a rare, potentially fatal genetic disorder characterized by severe high blood pressure. This disorder is caused by a deficiency in AME: 11 beta-hydroxy steroid dehydrogenase, an enzyme that converts cortisol to an inactive steroid called cortisone. Too much cortisol leads to extreme high blood pressure. Children with this disorder have poor growth; delayed puberty; muscle weakness; heart rate irregularity; excessive thirst; and, eventually, damaged kidneys, eyes, heart, and other organs.

Dr. New was the first to discover an effective treatment for AME, and she and her team at Mount Sinai have assembled and are following the largest cohort of people with this disorder.

Dr. New and her colleagues also have discovered and described other disorders of steroid metabolism, including dexamethasone-suppressible hyperaldosteronism (DSH) and multiple steroid resistance syndrome (MSRS). DSH causes the adrenal glands to produce too much aldosterone, leading the body to lose potassium and retain sodium. The excess sodium holds onto water, which increases blood volume and blood pressure. Like CAH, DSH can be treated with dexamethasone. Children with MSRS have high levels of cortisol and adrenal androgens but have no clinical features that accompany similar disorders, such as CAH. This disorder does not respond to the same treatments that are successful in CAH.

Ongoing research is gradually teasing out the genetic and hormonal foundations of these disorders, leading to hope for future treatments and improved quality of life for the children who have them.


A Lifetime of Research Recognized

Dr. New's contributions to basic research and clinical care have been recognized many times and in many ways. NICHD and other NIH institutes provided 43 years (1967 to 2010) of continuing grant support.

In 1998, Dr. New received an NIH MERIT Award, which provides long-term, stable support to investigators whose research competence and productivity are distinctly superior and who are likely to continue to perform in an outstanding manner. She has published more than 500 articles and has served on the editorial boards of the major scientific journals in endocrinology. Among her many other honors are:

  • Induction into the NICHD Hall of Honor, 2003
  • Election as a Fellow of the American Association for the Advancement of Science, 1999
  • Election to the National Academy of Sciences, 1996
  • Presidency of The Endocrine Society, 1992
  • Receipt of the New York Academy of Medicine Medal for Distinguished Contributions in Biomedical Science, 1991


A Lifetime of Research Continues

Since 2004, Dr. New has been a professor and director of the Adrenal Steroid Disorders Program at Mount Sinai School of Medicine. Her passion for basic research and clinical care remains strong. She continues to lead studies, speak at scientific meetings and conferences, train young investigators, and care for patients, and she maintains contact with those she treated years ago as children.

Dr. New's work has had a lasting impact on the health and well-being of children and adults. Her studies have explained the genetic basis of several devastating and life-threatening disorders, and she was a pioneer in relating the genetic characteristics of the disorders to their physical effects. Her investigations of steroid metabolism have considerably advanced our understanding of the complex relationships among the hormones and enyzmes of the endocrine system and the disorders that result when these relationships are disrupted. Perhaps most importantly, her seminal research established standards of care for patients with these disorders, leading to improved health and quality of life for thousands of children.


Understanding the Adrenal Glands

The two adrenal glands, which sit on top of the kidneys, produce cortisol and aldosterone. These two hormones regulate many critical functions in the body.

Cortisol andrenal glands, kidneys. and brain

The process starts with the hypothalamus, an organ that produces corticotropin-releasing hormone (CRH). CRH triggers the pituitary gland, a bean-sized organ in the brain, to send out adrenocorticotropin (ACTH). In turn, ACTH stimulates the adrenal glands to produce cortisol. Cortisol belongs to a group of hormones called glucocorticoids. These hormones affect almost every tissue and organ in the body, and they are responsible for several key tasks:

  • Helping the body respond to stress
  • Maintaining blood pressure and normal heart function
  • Slowing the immune system's inflammatory response
  • Maintaining levels of glucose (the body's main source of energy) in the blood
  • Regulating the metabolism of proteins, carbohydrates, and fats

If cortisol is not produced efficiently ACTH levels become elevated. These high levels, in turn, lead to abnormally high levels of androgens (male sex hormones), which disrupt normal growth and development and can lead to CAH.


The adrenal glands also produce aldosterone, which belongs to a group of hormones called mineralocorticoids. Aldosterone helps maintain blood pressure and water and salt balance in the body. It does this by helping the kidneys retain sodium and excrete potassium.

If the adrenal glands don't produce enough aldosterone, the kidneys cannot regulate the balance of water and salt. This leads to a drop in blood volume and a drop in blood pressure.


Last Reviewed: 03/21/2014
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