Position statement on the diagnosis and management of congenital pituitary deficiency in adults: The French National Diagnosis and Treatment Protocol (NDTP).

Pituitary deficiency (hypopituitarism) is defined by insufficient synthesis of one or more pituitary hormones, with or without arginine vasopressin deficiency.

• Affected hormones include growth hormone, TSH, ACTH, LH-FSH, and prolactin.
• Arginine vasopressin deficiency was formerly known as diabetes insipidus.
• The condition is classified as a rare chronic disease.
• In adults, it is usually acquired (notably during childhood) but can also be congenital due to abnormal pituitary development.

The clinical presentation of congenital pituitary deficiency is highly variable, ranging from isolated deficit to multiple deficits.

• Deficits may present as isolated single hormone deficiency or combined multiple pituitary hormone deficiencies.
• The condition may be part of a syndromic form or present non-syndromically.
• Deficits may be progressive over time, requiring ongoing reassessment.
• Special clinical situations include pregnancy and elderly patients.

Diagnosis of congenital pituitary deficiency requires a multimodal approach combining clinical, biological, radiological, and genetic assessments.

• Biological assessment must include evaluation of all hormonal axes.
• Radiological workup includes brain and hypothalamic-pituitary MRI.
• Genetic evaluation is a component of the diagnostic workup.
• The combination of all four diagnostic modalities (clinical, biological, radiological, genetic) is required for diagnosis.

Treatment of congenital pituitary deficiency consists of hormonal replacement therapy adapted according to the period of life and the specific deficits present.

• Hormonal replacement therapy must be individualized based on the deficits identified.
• Treatment adaptation is required across different life periods, including pregnancy and old age.
• Deficits may be progressive, necessitating adjustment of replacement therapy over time.
• Special situations such as pregnancy and elderly patients require specific management considerations.

Congenital pituitary deficiency in adults is associated with significant comorbidities, risk of complications, acute decompensation, and impacts on fertility and quality of life.

• Comorbidities and risk of acute decompensation are recognized features requiring active management.
• The condition impacts both fertility and quality of life.
• Long-term monitoring is required as part of disease management.
• Adaptive multidisciplinary care is specified as necessary to address the full burden of the disease.

This document represents a French National Diagnosis and Treatment Protocol (NDTP) position statement establishing standardized guidance for congenital pituitary deficiency in adults.

• The protocol was developed to cover the full care pathway from diagnosis to follow-up.
• It addresses special situations including pregnancy and elderly patients.
• The protocol was developed under the framework of a National Diagnosis and Treatment Protocol, indicating its status as an official rare disease guideline in France.
• Multiple specialist authors from different centers contributed to the document, reflecting its multidisciplinary scope.