Living with Obesity due to congenital leptin deficiency
An inherited condition with constant hunger and severe obesity starting in the first months of life, plus delayed puberty.
Understanding Obesity due to congenital leptin deficiency
Children are a normal weight at birth but are constantly hungry and gain weight quickly. Without treatment, the extreme hunger continues. In early childhood, abnormal eating behaviors can develop, such as hoarding food or eating in secret. People also have low hormones that direct sexual development, which can cause delayed or absent puberty and infertility. GARD lists childhood as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Obesity
- Low leptin in the blood
- Constant, strong hunger (polyphagia)
- Delayed or absent puberty
- Low sex hormone levels
- Recurrent colds and upper respiratory infections
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists, hormone specialists, maternal-fetal medicine specialists and urinary and male reproductive system specialists.
- 3Consider genetic testing
Changes in LEP are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Resolve: The National Infertility Association and Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: Resolve: The National Infertility Association, Pituitary Network Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Resolve: The National Infertility Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the LEP gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: congenital leptin deficiency; leptin deficiency; leptin deficiency or dysfunction; obesity, morbid, due to leptin deficiency
Patient organizations
- Resolve: The National Infertility AssociationInfertility · United States
- Pituitary Network AssociationPituitary deficiencies · United States
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Perspectives from people navigating life with Obesity due to congenital leptin deficiency.
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