Living with Familial adrenal hypoplasia with absent pituitary luteinizing hormone
A rare inherited hormone condition in infants with small adrenal glands and a missing pituitary hormone.
Understanding Familial adrenal hypoplasia with absent pituitary luteinizing hormone
The pituitary gland lacks one hormone, luteinizing hormone. Features include low sex hormone levels (hypogonadism), low blood sugar, seizures, brain illness, and a condition that causes excess urination (diabetes insipidus). It is seen in infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underdeveloped adrenal glands
- Low luteinizing hormone
- Small penis (micropenis)
- Undescended testes
- Low blood sugar
- Seizures
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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 genes cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent. GARD does not name the gene.
Also known as: adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone; familial adrenal hypoplasia with absent pituitary lh; familial adrenal hypoplasia, miniature type
Patient organizations
- Resolve: The National Infertility AssociationInfertility · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial adrenal hypoplasia with absent pituitary luteinizing hormone.
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