Christopher Romero, MD, a pediatric endocrinologist at Mount Sinai Medical Center, New York City, and Associate Professor of Pediatrics at the Icahn School of Medicine at Mount Sinai discusses arginine vasopressin deficiency. The name of the rare disease central diabetes insipidus was changed in 2024 to better reflect its etiology.

Central diabetes insipidus, a rare disease, is unrelated to the common medical problem diabetes mellitus, other than they are both problems related to endocrinologic dysfunction. Whereas diabetes mellitus involves pancreatic function and the production of the hormone insulin, central diabetes insipidus involves the pituitary gland and regulation of the hormone vasopressin. Dr. Romero stated that a new name for central diabetes insipidus was introduced in 2024—arginine vasopressin deficiency (AVP-D) to reflect the difference and relieve misconceptions caused by the traditional naming. 

The central issue with AVP-D is the function of antidiuretic hormone, which regulates water concentrations in the body. Pediatric and adult patients with this vasopressin deficiency (which mediates antidiuretic hormone levels) excrete more urine than patients without the deficiency. “It causes these patients to drink more, to make up for the water loss,” said Dr. Romero, “resulting in kids being thirstier and having to use the bathroom more often.” 

As a result, AVP-D can lead to weight loss and loss of appetite, dehydration, and electrolyte abnormalities. He also pointed out that the abnormal cycle of drinking and urination in children interferes with school work and performance. 

“Unless you’re aware of [AVP-D], you may miss the diagnosis,” said Dr. Romero. The pituitary gland is involved with so many functions, and symptoms only slowly evolve. Issues with the onset of puberty and growth may hint at the pituitary source of the problem. 

Historically, treatment was managed with an oral formulation of vasopressin, which was first available in the 1970s. An intravenous form was available in inpatient settings. A nasal spray formulation was subsequently developed, and is useful particularly with older children. Dr. Romero pointed out, figuring out the correct dosage for an individual pediatric patient is key; every child with AVP-D is different in terms of how much water they lose during the drinking–urination cycle. “Even though the oral form was effective, only two dosages were available. You have to titrate the dose to balance the water loss,” he emphasized.

The introduction of Desmoda in February 2026, an oral solution of desmopressin acetate 0.05 mg/mL, allows for easier titration. The solution may be easier to take than the pills for young children, and caregivers may have a better idea of precisely how much medication the patient is getting. For those reasons, Dr. Romero believes this formulation may be the best option for young pediatric patients with AVP-D.
 

0 0

Robert Rapaport, MD, Professor of Pediatric Endocrinology, and Director of the Comprehensive Growth Center at the Icahn School of Medicine, Mount Sinai Medical Center, New York City, discusses the causes of growth hormone deficiency and its treatment.

Growth failure in children is a considerable challenge for parents and pediatricians, with clinical and social stigma implications that may be avoided with early diagnosis.

The most important issue in young patients with growth failure is to detect it early, according to Dr. Rapaport. “As soon as you see a major deviation from the [expected growth chart] norm, act on it, even at age 2,” he emphasized, “because we know that best outcomes result from early detection.”

A growth failure diagnosis is delayed or underdiagnosed in minority groups; it is underdiagnosed in girls relative to boys. In most cases, children are referred to the Comprehensive Growth Center by pediatricians and primary care physicians, and it should be monitored from birth.

Growth failure in children can be caused by growth hormone (GH) deficiency, malnutrition, celiac disease, pituitary tumor (which suppresses the release of growth hormone) or a very rare genetic deletion. Once the potentially nonendocrine causes of GH deficiency are excluded, then causes related to the hypothalamus–pituitary-thyroid axis should be investigated, said Dr. Rapaport.

Growth hormone stimulation testing and low blood levels of insulin-like growth factor (IGF) and IGF-binding protein concentrations can help confirm GH deficiency as the cause. However, low IGF-1 levels can also be caused by excessively high GH levels.

In children diagnosed with GH deficiency, weekly GH injections are typically prescribed. In addition to monitoring these children for potential side effects of the GH injections, Dr. Rapoport recommended that they should undergo lab testing for IGF-1 blood concentrations every 3 to 6 months, until the bones fuse (signaling the conclusion of growth).

0 0

Robert Rapaport, MD, Professor of Pediatric Endocrinology, and Director of the Comprehensive Growth Center at the Icahn School of Medicine, Mount Sinai Medical Center, New York City, discusses the causes of growth hormone deficiency and its treatment.

Growth failure in children is a considerable challenge for parents and pediatricians, with clinical and social stigma implications that may be avoided with early diagnosis.

The most important issue in young patients with growth failure is to detect it early, according to Dr. Rapaport. “As soon as you see a major deviation from the [expected growth chart] norm, act on it, even at age 2,” he emphasized, “because we know that best outcomes result from early detection.”

A growth failure diagnosis is delayed or underdiagnosed in minority groups; it is underdiagnosed in girls relative to boys. In most cases, children are referred to the Comprehensive Growth Center by pediatricians and primary care physicians, and it should be monitored from birth.

Growth failure in children can be caused by growth hormone (GH) deficiency, malnutrition, celiac disease, pituitary tumor (which suppresses the release of growth hormone) or a very rare genetic deletion. Once the potentially nonendocrine causes of GH deficiency are excluded, then causes related to the hypothalamus–pituitary-thyroid axis should be investigated, said Dr. Rapaport.

Growth hormone stimulation testing and low blood levels of insulin-like growth factor (IGF) and IGF-binding protein concentrations can help confirm GH deficiency as the cause. However, low IGF-1 levels can also be caused by excessively high GH levels.

In children diagnosed with GH deficiency, weekly GH injections are typically prescribed. In addition to monitoring these children for potential side effects of the GH injections, Dr. Rapoport recommended that they should undergo lab testing for IGF-1 blood concentrations every 3 to 6 months, until the bones fuse (signaling the conclusion of growth).

0 0

Robert Rapaport, MD, Professor of Pediatric Endocrinology, and Director of the Comprehensive Growth Center at the Icahn School of Medicine, Mount Sinai Medical Center, New York City, discusses the causes of growth hormone deficiency and its treatment.

Growth failure in children is a considerable challenge for parents and pediatricians, with clinical and social stigma implications that may be avoided with early diagnosis.

The most important issue in young patients with growth failure is to detect it early, according to Dr. Rapaport. “As soon as you see a major deviation from the [expected growth chart] norm, act on it, even at age 2,” he emphasized, “because we know that best outcomes result from early detection.”

A growth failure diagnosis is delayed or underdiagnosed in minority groups; it is underdiagnosed in girls relative to boys. In most cases, children are referred to the Comprehensive Growth Center by pediatricians and primary care physicians, and it should be monitored from birth.

Growth failure in children can be caused by growth hormone (GH) deficiency, malnutrition, celiac disease, pituitary tumor (which suppresses the release of growth hormone) or a very rare genetic deletion. Once the potentially nonendocrine causes of GH deficiency are excluded, then causes related to the hypothalamus–pituitary-thyroid axis should be investigated, said Dr. Rapaport.

Growth hormone stimulation testing and low blood levels of insulin-like growth factor (IGF) and IGF-binding protein concentrations can help confirm GH deficiency as the cause. However, low IGF-1 levels can also be caused by excessively high GH levels.

In children diagnosed with GH deficiency, weekly GH injections are typically prescribed. In addition to monitoring these children for potential side effects of the GH injections, Dr. Rapoport recommended that they should undergo lab testing for IGF-1 blood concentrations every 3 to 6 months, until the bones fuse (signaling the conclusion of growth).

0 0

Robert Rapaport, MD, Professor of Pediatric Endocrinology, and Director of the Comprehensive Growth Center at the Icahn School of Medicine, Mount Sinai Medical Center, New York City, discusses the causes of growth hormone deficiency and its treatment.

Growth failure in children is a considerable challenge for parents and pediatricians, with clinical and social stigma implications that may be avoided with early diagnosis.

The most important issue in young patients with growth failure is to detect it early, according to Dr. Rapaport. “As soon as you see a major deviation from the [expected growth chart] norm, act on it, even at age 2,” he emphasized, “because we know that best outcomes result from early detection.”

A growth failure diagnosis is delayed or underdiagnosed in minority groups; it is underdiagnosed in girls relative to boys. In most cases, children are referred to the Comprehensive Growth Center by pediatricians and primary care physicians, and it should be monitored from birth.

Growth failure in children can be caused by growth hormone (GH) deficiency, malnutrition, celiac disease, pituitary tumor (which suppresses the release of growth hormone) or a very rare genetic deletion. Once the potentially nonendocrine causes of GH deficiency are excluded, then causes related to the hypothalamus–pituitary-thyroid axis should be investigated, said Dr. Rapaport.

Growth hormone stimulation testing and low blood levels of insulin-like growth factor (IGF) and IGF-binding protein concentrations can help confirm GH deficiency as the cause. However, low IGF-1 levels can also be caused by excessively high GH levels.

In children diagnosed with GH deficiency, weekly GH injections are typically prescribed. In addition to monitoring these children for potential side effects of the GH injections, Dr. Rapoport recommended that they should undergo lab testing for IGF-1 blood concentrations every 3 to 6 months, until the bones fuse (signaling the conclusion of growth).

0 0

Robert Rapaport, MD, Professor of Pediatric Endocrinology, and Director of the Comprehensive Growth Center at the Icahn School of Medicine, Mount Sinai Medical Center, New York City, discusses the causes of growth hormone deficiency and its treatment.

Growth failure in children is a considerable challenge for parents and pediatricians, with clinical and social stigma implications that may be avoided with early diagnosis.

The most important issue in young patients with growth failure is to detect it early, according to Dr. Rapaport. “As soon as you see a major deviation from the [expected growth chart] norm, act on it, even at age 2,” he emphasized, “because we know that best outcomes result from early detection.”

A growth failure diagnosis is delayed or underdiagnosed in minority groups; it is underdiagnosed in girls relative to boys. In most cases, children are referred to the Comprehensive Growth Center by pediatricians and primary care physicians, and it should be monitored from birth.

Growth failure in children can be caused by growth hormone (GH) deficiency, malnutrition, celiac disease, pituitary tumor (which suppresses the release of growth hormone) or a very rare genetic deletion. Once the potentially nonendocrine causes of GH deficiency are excluded, then causes related to the hypothalamus–pituitary-thyroid axis should be investigated, said Dr. Rapaport.

Growth hormone stimulation testing and low blood levels of insulin-like growth factor (IGF) and IGF-binding protein concentrations can help confirm GH deficiency as the cause. However, low IGF-1 levels can also be caused by excessively high GH levels.

In children diagnosed with GH deficiency, weekly GH injections are typically prescribed. In addition to monitoring these children for potential side effects of the GH injections, Dr. Rapoport recommended that they should undergo lab testing for IGF-1 blood concentrations every 3 to 6 months, until the bones fuse (signaling the conclusion of growth).

0 0

Robert Rapaport, MD, Professor of Pediatric Endocrinology, and Director of the Comprehensive Growth Center at the Icahn School of Medicine, Mount Sinai Medical Center, New York City, discusses the causes of growth hormone deficiency and its treatment.

Growth failure in children is a considerable challenge for parents and pediatricians, with clinical and social stigma implications that may be avoided with early diagnosis.

The most important issue in young patients with growth failure is to detect it early, according to Dr. Rapaport. “As soon as you see a major deviation from the [expected growth chart] norm, act on it, even at age 2,” he emphasized, “because we know that best outcomes result from early detection.”

A growth failure diagnosis is delayed or underdiagnosed in minority groups; it is underdiagnosed in girls relative to boys. In most cases, children are referred to the Comprehensive Growth Center by pediatricians and primary care physicians, and it should be monitored from birth.

Growth failure in children can be caused by growth hormone (GH) deficiency, malnutrition, celiac disease, pituitary tumor (which suppresses the release of growth hormone) or a very rare genetic deletion. Once the potentially nonendocrine causes of GH deficiency are excluded, then causes related to the hypothalamus–pituitary-thyroid axis should be investigated, said Dr. Rapaport.

Growth hormone stimulation testing and low blood levels of insulin-like growth factor (IGF) and IGF-binding protein concentrations can help confirm GH deficiency as the cause. However, low IGF-1 levels can also be caused by excessively high GH levels.

In children diagnosed with GH deficiency, weekly GH injections are typically prescribed. In addition to monitoring these children for potential side effects of the GH injections, Dr. Rapoport recommended that they should undergo lab testing for IGF-1 blood concentrations every 3 to 6 months, until the bones fuse (signaling the conclusion of growth).

0 0

Robert Rapaport, MD, Professor of Pediatric Endocrinology, and Director of the Comprehensive Growth Center at the Icahn School of Medicine, Mount Sinai Medical Center, New York City, discusses the causes of growth hormone deficiency and its treatment.

Growth failure in children is a considerable challenge for parents and pediatricians, with clinical and social stigma implications that may be avoided with early diagnosis.

The most important issue in young patients with growth failure is to detect it early, according to Dr. Rapaport. “As soon as you see a major deviation from the [expected growth chart] norm, act on it, even at age 2,” he emphasized, “because we know that best outcomes result from early detection.”

A growth failure diagnosis is delayed or underdiagnosed in minority groups; it is underdiagnosed in girls relative to boys. In most cases, children are referred to the Comprehensive Growth Center by pediatricians and primary care physicians, and it should be monitored from birth.

Growth failure in children can be caused by growth hormone (GH) deficiency, malnutrition, celiac disease, pituitary tumor (which suppresses the release of growth hormone) or a very rare genetic deletion. Once the potentially nonendocrine causes of GH deficiency are excluded, then causes related to the hypothalamus–pituitary-thyroid axis should be investigated, said Dr. Rapaport.

Growth hormone stimulation testing and low blood levels of insulin-like growth factor (IGF) and IGF-binding protein concentrations can help confirm GH deficiency as the cause. However, low IGF-1 levels can also be caused by excessively high GH levels.

In children diagnosed with GH deficiency, weekly GH injections are typically prescribed. In addition to monitoring these children for potential side effects of the GH injections, Dr. Rapoport recommended that they should undergo lab testing for IGF-1 blood concentrations every 3 to 6 months, until the bones fuse (signaling the conclusion of growth).

CHAPTERS
Introduction 00:00
GHD, Gene Deletion, and IGF-1 Deficiency 00:37
Growth Failure in Children 2:07
Advice for Recognizing GHD 3:13
Challenges to Diagnosis 5:18
Impact of Delayed Diagnosis and Treatment 7:00
Management Strategies 8:16
Treatment and Monitoring Advancements 9:45

1 0

John Day, PhD, MD, Director of Neuromuscular Medicine at Stanford University, discusses the development of Itvisma gene therapy for patients with spinal muscular atrophy (SMA).

SMA is a group of genetic neuromuscular disorders that affect the motor neurons, causing progressive muscle weakness and loss of movement due to atrophy. Many types of SMA mainly affect the muscles involved in walking, sitting, arm movement, and head control. Breathing and swallowing may also become difficult as the disease progresses in many types of SMA. SMA type 1, 2, 3, and 4 are caused by mutations in the SMN1 gene. Extra copies of the nearby related gene, SMN2, modify the severity of SMA. There are other rarer types of SMA caused by changes in different genes.

In the last decade, there has been growing development in gene therapy for SMA. In 2017, an intravenous adeno-associated virus (AAV) vector-based gene therapy, Zolgensma (onasemnogene abeparvovec), was developed. Later approved in 2019, the therapy was indicated for patients less than 2 years of age with SMA due to weight-based dosing limitations. As Dr. Day explains, the treatment’s intravenous administration and large viral load caused concerns on reactions and side effects.

To address these limitations, researchers began the development of a spinal injection administration. Dr. Day explains how this allows for a more targeted approach that can be dosed in lower amounts, thus decreasing concerns on reactions.

Itvisma (onasemnogene abeparvovec), approved in November 2025, is a one-time intrathecal injection for patients with SMA. It is the first gene therapy licensed to be given via spinal injection, which Dr. Day highlights will change the landscape for other genetic central nervous system disorders.

The approval of Itvisma was based on data from the registrational phase 3 STEER clinical trial and supported by the open-label phase 3b STRENGTH study. Itvisma was observed to significantly improve motor function and stabilization of motor abilities typically not seen in the natural history of the disease, with effects sustained over 52 weeks of follow-up. Additionally, the safety profile of Itvisma was consistent across both studies. The most common adverse events in the STEER study were upper respiratory tract infection and pyrexia, and the most common adverse events in the STRENGTH study were common cold, pyrexia, and vomiting.

CHAPTERS
Introduction 00:00
SMA Overview 00:25
Current Management 1:46
The Development of Itvisma Gene Therapy 2:38
Status of Nerves at Treatment 7:06
Advice to Newly Diagnosed Families 10:37
Take Home Message 13:00

0 0