Mitchell Geffner, MD, Co-Director, Congenital Adrenal Hyperplasia Clinic, and Ron Burkle Chair, Center for Endocrinology, Diabetes, and Metabolism, Children’s Hospital of Los Angeles, discusses the etiology, diagnosis, and management of pediatric adrenocortical insufficiency.

Pediatric adrenal insufficiency manifests as inadequate production of cortisol (also called hydrocortisone) and sometimes of aldosterone, two essential hormones. The most common cause is primary dysfunction in the adrenal cortex, usually from congenital adrenal hyperplasia. It can also result from a pituitary or hypothalamic disorder, where adrenocorticotropic hormone fails to prompt the adrenal glands to produce cortisol.

In terms of diagnosis, Dr. Geffner explained that its early signs and features are vague and mimic other clinical problems (e.g, fatigue, nausea, weight loss, and headaches). “Unless one has a very high clinical suspicion, the diagnosis will be missed or delayed, and that can be life threatening,” he said. Patients can wind up in the emergency room because of hypoglycemia or hyponatremia, and it is important that first responders and critical care doctors are aware of the patient’s condition.

A simple lab test for electrolyte levels—low sodium concentrations and high potassium levels (associated with aldosterone deficiency)—can help point to the correct diagnosis, said Dr. Geffner. A finding of morning serum cortisol concentrations below 3 mcg/dL is definitive for pediatric adrenal insufficiency.

Adrenoleukodystrophy, another potential cause of pediatric adrenal insufficiency, is part of the newborn screening panel in some but not in the majority of states, according to Dr. Geffner.

Historically, the treatment of pediatric adrenal insufficiency was based on hydrocortisone replacement. Normally, a child’s daily production of cortisol is around 8 mg/m2/day, and this varies throughout the day (i.e., more is produced in the morning, upon awakening) and with higher levels of stress (such as fever, trauma, or surgery). The goal of management is to use the lowest oral corticosteroid dose possible to address the physiologic deficiency throughout the day and account for episodes of stress, while avoiding potential side effects, like stunted growth. Episodes of adrenal insufficiency caused by stress are addressed with intramuscular injections of hydrocortisone. Therefore, all patients with adrenal insufficiency should have ready access to an injectable form of cortisol, said Dr. Geffner.

Children with adrenal insufficiency have no restrictions on activities, like sports, to avoid an unforeseen, stressful event, like a broken bone. “We do recommend that the school knows about the child’s medical condition,” he commented. “Nurses are not always available at the school. Parents should also meet with local EMS personnel, so if the EMS gets a call, they’ll know the child’s condition, also perhaps what medicine is available at home.”

One unmet need is to make an easy-to-administer hydrocortisone injection. “Several companies are looking at autoinjectors, needle-less injectors, that don’t require mixing,” noted Dr. Geffner.

0 0

Mitchell Geffner, MD, Co-Director, Congenital Adrenal Hyperplasia Clinic, and Ron Burkle Chair, Center for Endocrinology, Diabetes, and Metabolism, Children’s Hospital of Los Angeles, discusses the etiology, diagnosis, and management of pediatric adrenocortical insufficiency.

Pediatric adrenal insufficiency manifests as inadequate production of cortisol (also called hydrocortisone) and sometimes of aldosterone, two essential hormones. The most common cause is primary dysfunction in the adrenal cortex, usually from congenital adrenal hyperplasia. It can also result from a pituitary or hypothalamic disorder, where adrenocorticotropic hormone fails to prompt the adrenal glands to produce cortisol.

In terms of diagnosis, Dr. Geffner explained that its early signs and features are vague and mimic other clinical problems (e.g, fatigue, nausea, weight loss, and headaches). “Unless one has a very high clinical suspicion, the diagnosis will be missed or delayed, and that can be life threatening,” he said. Patients can wind up in the emergency room because of hypoglycemia or hyponatremia, and it is important that first responders and critical care doctors are aware of the patient’s condition.

A simple lab test for electrolyte levels—low sodium concentrations and high potassium levels (associated with aldosterone deficiency)—can help point to the correct diagnosis, said Dr. Geffner. A finding of morning serum cortisol concentrations below 3 mcg/dL is definitive for pediatric adrenal insufficiency.

Adrenoleukodystrophy, another potential cause of pediatric adrenal insufficiency, is part of the newborn screening panel in some but not in the majority of states, according to Dr. Geffner.

Historically, the treatment of pediatric adrenal insufficiency was based on hydrocortisone replacement. Normally, a child’s daily production of cortisol is around 8 mg/m2/day, and this varies throughout the day (i.e., more is produced in the morning, upon awakening) and with higher levels of stress (such as fever, trauma, or surgery). The goal of management is to use the lowest oral corticosteroid dose possible to address the physiologic deficiency throughout the day and account for episodes of stress, while avoiding potential side effects, like stunted growth. Episodes of adrenal insufficiency caused by stress are addressed with intramuscular injections of hydrocortisone. Therefore, all patients with adrenal insufficiency should have ready access to an injectable form of cortisol, said Dr. Geffner.

Children with adrenal insufficiency have no restrictions on activities, like sports, to avoid an unforeseen, stressful event, like a broken bone. “We do recommend that the school knows about the child’s medical condition,” he commented. “Nurses are not always available at the school. Parents should also meet with local EMS personnel, so if the EMS gets a call, they’ll know the child’s condition, also perhaps what medicine is available at home.”

One unmet need is to make an easy-to-administer hydrocortisone injection. “Several companies are looking at autoinjectors, needle-less injectors, that don’t require mixing,” noted Dr. Geffner.

1 0

Mitchell Geffner, MD, Co-Director, Congenital Adrenal Hyperplasia Clinic, and Ron Burkle Chair, Center for Endocrinology, Diabetes, and Metabolism, Children’s Hospital of Los Angeles, discusses the etiology, diagnosis, and management of pediatric adrenocortical insufficiency.

Pediatric adrenal insufficiency manifests as inadequate production of cortisol (also called hydrocortisone) and sometimes of aldosterone, two essential hormones. The most common cause is primary dysfunction in the adrenal cortex, usually from congenital adrenal hyperplasia. It can also result from a pituitary or hypothalamic disorder, where adrenocorticotropic hormone fails to prompt the adrenal glands to produce cortisol.

In terms of diagnosis, Dr. Geffner explained that its early signs and features are vague and mimic other clinical problems (e.g, fatigue, nausea, weight loss, and headaches). “Unless one has a very high clinical suspicion, the diagnosis will be missed or delayed, and that can be life threatening,” he said. Patients can wind up in the emergency room because of hypoglycemia or hyponatremia, and it is important that first responders and critical care doctors are aware of the patient’s condition.

A simple lab test for electrolyte levels—low sodium concentrations and high potassium levels (associated with aldosterone deficiency)—can help point to the correct diagnosis, said Dr. Geffner. A finding of morning serum cortisol concentrations below 3 mcg/dL is definitive for pediatric adrenal insufficiency.

Adrenoleukodystrophy, another potential cause of pediatric adrenal insufficiency, is part of the newborn screening panel in some but not in the majority of states, according to Dr. Geffner.

Historically, the treatment of pediatric adrenal insufficiency was based on hydrocortisone replacement. Normally, a child’s daily production of cortisol is around 8 mg/m2/day, and this varies throughout the day (i.e., more is produced in the morning, upon awakening) and with higher levels of stress (such as fever, trauma, or surgery). The goal of management is to use the lowest oral corticosteroid dose possible to address the physiologic deficiency throughout the day and account for episodes of stress, while avoiding potential side effects, like stunted growth. Episodes of adrenal insufficiency caused by stress are addressed with intramuscular injections of hydrocortisone. Therefore, all patients with adrenal insufficiency should have ready access to an injectable form of cortisol, said Dr. Geffner.

Children with adrenal insufficiency have no restrictions on activities, like sports, to avoid an unforeseen, stressful event, like a broken bone. “We do recommend that the school knows about the child’s medical condition,” he commented. “Nurses are not always available at the school. Parents should also meet with local EMS personnel, so if the EMS gets a call, they’ll know the child’s condition, also perhaps what medicine is available at home.”

One unmet need is to make an easy-to-administer hydrocortisone injection. “Several companies are looking at autoinjectors, needle-less injectors, that don’t require mixing,” noted Dr. Geffner.

0 0

Mitchell Geffner, MD, Co-Director, Congenital Adrenal Hyperplasia Clinic, and Ron Burkle Chair, Center for Endocrinology, Diabetes, and Metabolism, Children’s Hospital of Los Angeles, discusses the etiology, diagnosis, and management of pediatric adrenocortical insufficiency.

Pediatric adrenal insufficiency manifests as inadequate production of cortisol (also called hydrocortisone) and sometimes of aldosterone, two essential hormones. The most common cause is primary dysfunction in the adrenal cortex, usually from congenital adrenal hyperplasia. It can also result from a pituitary or hypothalamic disorder, where adrenocorticotropic hormone fails to prompt the adrenal glands to produce cortisol.

In terms of diagnosis, Dr. Geffner explained that its early signs and features are vague and mimic other clinical problems (e.g, fatigue, nausea, weight loss, and headaches). “Unless one has a very high clinical suspicion, the diagnosis will be missed or delayed, and that can be life threatening,” he said. Patients can wind up in the emergency room because of hypoglycemia or hyponatremia, and it is important that first responders and critical care doctors are aware of the patient’s condition.

A simple lab test for electrolyte levels—low sodium concentrations and high potassium levels (associated with aldosterone deficiency)—can help point to the correct diagnosis, said Dr. Geffner. A finding of morning serum cortisol concentrations below 3 mcg/dL is definitive for pediatric adrenal insufficiency.

Adrenoleukodystrophy, another potential cause of pediatric adrenal insufficiency, is part of the newborn screening panel in some but not in the majority of states, according to Dr. Geffner.

Historically, the treatment of pediatric adrenal insufficiency was based on hydrocortisone replacement. Normally, a child’s daily production of cortisol is around 8 mg/m2/day, and this varies throughout the day (i.e., more is produced in the morning, upon awakening) and with higher levels of stress (such as fever, trauma, or surgery). The goal of management is to use the lowest oral corticosteroid dose possible to address the physiologic deficiency throughout the day and account for episodes of stress, while avoiding potential side effects, like stunted growth. Episodes of adrenal insufficiency caused by stress are addressed with intramuscular injections of hydrocortisone. Therefore, all patients with adrenal insufficiency should have ready access to an injectable form of cortisol, said Dr. Geffner.

Children with adrenal insufficiency have no restrictions on activities, like sports, to avoid an unforeseen, stressful event, like a broken bone. “We do recommend that the school knows about the child’s medical condition,” he commented. “Nurses are not always available at the school. Parents should also meet with local EMS personnel, so if the EMS gets a call, they’ll know the child’s condition, also perhaps what medicine is available at home.”

One unmet need is to make an easy-to-administer hydrocortisone injection. “Several companies are looking at autoinjectors, needle-less injectors, that don’t require mixing,” noted Dr. Geffner.

0 0

Mitchell Geffner, MD, Co-Director, Congenital Adrenal Hyperplasia Clinic, and Ron Burkle Chair, Center for Endocrinology, Diabetes, and Metabolism, Children’s Hospital of Los Angeles, discusses the etiology, diagnosis, and management of pediatric adrenocortical insufficiency.

Pediatric adrenal insufficiency manifests as inadequate production of cortisol (also called hydrocortisone) and sometimes of aldosterone, two essential hormones. The most common cause is primary dysfunction in the adrenal cortex, usually from congenital adrenal hyperplasia. It can also result from a pituitary or hypothalamic disorder, where adrenocorticotropic hormone fails to prompt the adrenal glands to produce cortisol.

In terms of diagnosis, Dr. Geffner explained that its early signs and features are vague and mimic other clinical problems (e.g, fatigue, nausea, weight loss, and headaches). “Unless one has a very high clinical suspicion, the diagnosis will be missed or delayed, and that can be life threatening,” he said. Patients can wind up in the emergency room because of hypoglycemia or hyponatremia, and it is important that first responders and critical care doctors are aware of the patient’s condition.

A simple lab test for electrolyte levels—low sodium concentrations and high potassium levels (associated with aldosterone deficiency)—can help point to the correct diagnosis, said Dr. Geffner. A finding of morning serum cortisol concentrations below 3 mcg/dL is definitive for pediatric adrenal insufficiency.

Adrenoleukodystrophy, another potential cause of pediatric adrenal insufficiency, is part of the newborn screening panel in some but not in the majority of states, according to Dr. Geffner.

Historically, the treatment of pediatric adrenal insufficiency was based on hydrocortisone replacement. Normally, a child’s daily production of cortisol is around 8 mg/m2/day, and this varies throughout the day (i.e., more is produced in the morning, upon awakening) and with higher levels of stress (such as fever, trauma, or surgery). The goal of management is to use the lowest oral corticosteroid dose possible to address the physiologic deficiency throughout the day and account for episodes of stress, while avoiding potential side effects, like stunted growth. Episodes of adrenal insufficiency caused by stress are addressed with intramuscular injections of hydrocortisone. Therefore, all patients with adrenal insufficiency should have ready access to an injectable form of cortisol, said Dr. Geffner.

Children with adrenal insufficiency have no restrictions on activities, like sports, to avoid an unforeseen, stressful event, like a broken bone. “We do recommend that the school knows about the child’s medical condition,” he commented. “Nurses are not always available at the school. Parents should also meet with local EMS personnel, so if the EMS gets a call, they’ll know the child’s condition, also perhaps what medicine is available at home.”

One unmet need is to make an easy-to-administer hydrocortisone injection. “Several companies are looking at autoinjectors, needle-less injectors, that don’t require mixing,” noted Dr. Geffner.

0 0

Mitchell Geffner, MD, Co-Director, Congenital Adrenal Hyperplasia Clinic, and Ron Burkle Chair, Center for Endocrinology, Diabetes, and Metabolism, Children’s Hospital of Los Angeles, discusses the etiology, diagnosis, and management of pediatric adrenocortical insufficiency.

Pediatric adrenal insufficiency manifests as inadequate production of cortisol (also called hydrocortisone) and sometimes of aldosterone, two essential hormones. The most common cause is primary dysfunction in the adrenal cortex, usually from congenital adrenal hyperplasia. It can also result from a pituitary or hypothalamic disorder, where adrenocorticotropic hormone fails to prompt the adrenal glands to produce cortisol.

In terms of diagnosis, Dr. Geffner explained that its early signs and features are vague and mimic other clinical problems (e.g, fatigue, nausea, weight loss, and headaches). “Unless one has a very high clinical suspicion, the diagnosis will be missed or delayed, and that can be life threatening,” he said. Patients can wind up in the emergency room because of hypoglycemia or hyponatremia, and it is important that first responders and critical care doctors are aware of the patient’s condition.

A simple lab test for electrolyte levels—low sodium concentrations and high potassium levels (associated with aldosterone deficiency)—can help point to the correct diagnosis, said Dr. Geffner. A finding of morning serum cortisol concentrations below 3 mcg/dL is definitive for pediatric adrenal insufficiency.

Adrenoleukodystrophy, another potential cause of pediatric adrenal insufficiency, is part of the newborn screening panel in some but not in the majority of states, according to Dr. Geffner.

Historically, the treatment of pediatric adrenal insufficiency was based on hydrocortisone replacement. Normally, a child’s daily production of cortisol is around 8 mg/m2/day, and this varies throughout the day (i.e., more is produced in the morning, upon awakening) and with higher levels of stress (such as fever, trauma, or surgery). The goal of management is to use the lowest oral corticosteroid dose possible to address the physiologic deficiency throughout the day and account for episodes of stress, while avoiding potential side effects, like stunted growth. Episodes of adrenal insufficiency caused by stress are addressed with intramuscular injections of hydrocortisone. Therefore, all patients with adrenal insufficiency should have ready access to an injectable form of cortisol, said Dr. Geffner.

Children with adrenal insufficiency have no restrictions on activities, like sports, to avoid an unforeseen, stressful event, like a broken bone. “We do recommend that the school knows about the child’s medical condition,” he commented. “Nurses are not always available at the school. Parents should also meet with local EMS personnel, so if the EMS gets a call, they’ll know the child’s condition, also perhaps what medicine is available at home.”

One unmet need is to make an easy-to-administer hydrocortisone injection. “Several companies are looking at autoinjectors, needle-less injectors, that don’t require mixing,” noted Dr. Geffner.

0 0

Mitchell Geffner, MD, Co-Director, Congenital Adrenal Hyperplasia Clinic, and Ron Burkle Chair, Center for Endocrinology, Diabetes, and Metabolism, Children’s Hospital of Los Angeles, discusses the etiology, diagnosis, and management of pediatric adrenocortical insufficiency.

Pediatric adrenal insufficiency manifests as inadequate production of cortisol (also called hydrocortisone) and sometimes of aldosterone, two essential hormones. The most common cause is primary dysfunction in the adrenal cortex, usually from congenital adrenal hyperplasia. It can also result from a pituitary or hypothalamic disorder, where adrenocorticotropic hormone fails to prompt the adrenal glands to produce cortisol.

In terms of diagnosis, Dr. Geffner explained that its early signs and features are vague and mimic other clinical problems (e.g, fatigue, nausea, weight loss, and headaches). “Unless one has a very high clinical suspicion, the diagnosis will be missed or delayed, and that can be life threatening,” he said. Patients can wind up in the emergency room because of hypoglycemia or hyponatremia, and it is important that first responders and critical care doctors are aware of the patient’s condition.

A simple lab test for electrolyte levels—low sodium concentrations and high potassium levels (associated with aldosterone deficiency)—can help point to the correct diagnosis, said Dr. Geffner. A finding of morning serum cortisol concentrations below 3 mcg/dL is definitive for pediatric adrenal insufficiency.

Adrenoleukodystrophy, another potential cause of pediatric adrenal insufficiency, is part of the newborn screening panel in some but not in the majority of states, according to Dr. Geffner.

Historically, the treatment of pediatric adrenal insufficiency was based on hydrocortisone replacement. Normally, a child’s daily production of cortisol is around 8 mg/m2/day, and this varies throughout the day (i.e., more is produced in the morning, upon awakening) and with higher levels of stress (such as fever, trauma, or surgery). The goal of management is to use the lowest oral corticosteroid dose possible to address the physiologic deficiency throughout the day and account for episodes of stress, while avoiding potential side effects, like stunted growth. Episodes of adrenal insufficiency caused by stress are addressed with intramuscular injections of hydrocortisone. Therefore, all patients with adrenal insufficiency should have ready access to an injectable form of cortisol, said Dr. Geffner.

Children with adrenal insufficiency have no restrictions on activities, like sports, to avoid an unforeseen, stressful event, like a broken bone. “We do recommend that the school knows about the child’s medical condition,” he commented. “Nurses are not always available at the school. Parents should also meet with local EMS personnel, so if the EMS gets a call, they’ll know the child’s condition, also perhaps what medicine is available at home.”

One unmet need is to make an easy-to-administer hydrocortisone injection. “Several companies are looking at autoinjectors, needle-less injectors, that don’t require mixing,” noted Dr. Geffner.

CHAPTERS
Introduction 00:00
Pediatric Adrenal Insufficiency Overview 1:04
Adult Versus Pediatric Adrenal Insufficiency 1:48
Diagnostic Delays 3:16
Early Signs and Symptoms 5:08
Cortisol Replacement Therapy 7:56
Addressing Stress Triggers 12:34
Advice to Caregivers on Triggers 13:23
The Future of Adrenal Insufficiency 16:05

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

Jeff Guptill, MD, Neuromuscular Clinical Development Lead at Argenx, discusses the impact of the Vyvgart (efgartigimod alfa) approval on the myasthenia gravis (MG) community to treat patients with anti-MuSK-Ab positive, anti-LRP4-Ab positive, and/or triple seronegative MG.

MG is a chronic autoimmune neuromuscular disease characterized by weakness of the skeletal muscles. Common symptoms include weakness of the muscles that control the eye and eyelid, facial expressions, chewing, talking, and swallowing. The condition results from a defect in the transmission of nerve impulses to muscles due to the presence of antibodies against the acetylcholine receptor. The exact reason this occurs is not known.

In May 2026, the US Food and Drug Administration (FDA) approved Vyvgart (efgartigimod alfa) and Vyvgart Hytrulo (efgartigimod alfa and hyaluronidase) for the treatment of adult patients who have anti-MuSK-Ab positive, anti-LRP4-Ab positive, and/or triple seronegative MG. The medication was previously approved to treat patients with anti-AChR-Ab positive gMG.

Efgartigimod alfa is a first-in-class human IgG1 antibody fragment that binds to the neonatal Fc receptor (FcRn), resulting in the reduction of circulating IgG autoantibodies. Vyvgart Hytrulo is a subcutaneous combination of efgartigimod alfa and recombinant human hyaluronidase PH20 (rHuPH20) that allows for subcutaneous injection delivery.

Until this approval, traditional therapy was limited to cholinesterase inhibitors, corticosteroids and immunosuppressants for these MG subpopulations. However, research has shown that these subpopulations react to treatments in different ways, highlighting the need for more treatment options and research aimed at these specific subgroups.

Dr. Guptill explains the importance of this approval, specifically for the triple seronegative patients who now have their first rigorously studied treatment with a favorable safety and efficacy profile.

For more information on this approval visit, https://checkrare.com/fda-expands-indication-of-vyvgart-efgartigimod-alfa-for-adults-with-seronegative-myasthenia-gravis/

CHAPTERS
Introduction 00:00
Vyvgart (Efgartigimod Alfa) Indication 00:17
Antibody Presence’s Impact on Symptoms 00:47
Standard Therapy for Nontraditional Patients 1:52
Importance of Treatment Options 3:08
What Physicians Should Know 4:04

0 0