<abstract xmlns="http://www.w3.org/1999/xhtml">

Inherited metabolic disorders (IMDs ) are a rare and diverse group of metabolic conditions mainly caused by enzyme deficiencies, and in some of these, hormonal dysfunction is a relatively common complication. It may present in childhood and subsequently hormonal replacement is required throughout their life. Endocrinopathies can be a presenting symptom of an IMD in adulthood, which should be suspected when associated with multiorgan involvement (neurological, musculoskeletal or liver, etc.). A single IMD can affect any gland with hypogonadism, adrenal insufficiency, diabetes mellitus and thyroid dysfunction being the most common. In some cases, however, it is diagnosed later in their adult life as a secondary complication of previous therapies such as chemotherapy used during Haematopoietic Stem Cell Transplantation (HSCT) in childhood.
The mechanisms of endocrine dysfunction in this group of conditions are not well understood. Regardless, patients require ongoing clinical support from the endocrine, metabolic, bone metabolism and fertility specialists throughout their life.
Hormonal profiling should be part of the routine blood test panel to diagnose asymptomatic endocrine disorders with delayed manifestations. It is also worth considering screening for common hormonal dysfunction when patients exhibit atypical non-IMD related symptoms. In some adult-onset cases presenting with multiple endocrinopathies, the diagnosis of an IMD should be suspected.
Given that new therapies are in development (e.g. gene therapies, stem cell therapies, pharmacological chaperone and substrate reduction therapies), clinicians should be aware of their potential long-term effect on the endocrine system.
</abstract>

Inherited metabolic disorders (IMDs ) are a rare and diverse group of metabolic conditions mainly caused by enzyme deficiencies, and in some of these, hormonal dysfunction is a relatively common complication. It may present in childhood and subsequently hormonal replacement is required throughout their life. Endocrinopathies can be a presenting symptom of an IMD in adulthood, which should be suspected when associated with multiorgan involvement (neurological, musculoskeletal or liver, etc.). A single IMD can affect any gland with hypogonadism, adrenal insufficiency, diabetes mellitus and thyroid dysfunction being the most common. In some cases, however, it is diagnosed later in their adult life as a secondary complication of previous therapies such as chemotherapy used during Haematopoietic Stem Cell Transplantation (HSCT) in childhood.
The mechanisms of endocrine dysfunction in this group of conditions are not well understood. Regardless, patients require ongoing clinical support from the endocrine, metabolic, bone metabolism and fertility specialists throughout their life.
Hormonal profiling should be part of the routine blood test panel to diagnose asymptomatic endocrine disorders with delayed manifestations. It is also worth considering screening for common hormonal dysfunction when patients exhibit atypical non-IMD related symptoms. In some adult-onset cases presenting with multiple endocrinopathies, the diagnosis of an IMD should be suspected.
Given that new therapies are in development (e.g. gene therapies, stem cell therapies, pharmacological chaperone and substrate reduction therapies), clinicians should be aware of their potential long-term effect on the endocrine system.

Hormonal dysfunction in adult patients affected with inherited metabolic disorders

Journal of Mother and Child

This work is licensed under the Creative Commons Attribution 4.0 International License.

Inherited metabolic disorders (IMDs ) are a rare and diverse group of metabolic conditions mainly caused by enzyme deficiencies, and in some of these, hormonal...

Hormonal dysfunction in adult patients affected with inherited metabolic disorders

Article Category: Review paper

Publicado en línea: 10 nov 2020

Páginas: 21 - 31

DOI: https://doi.org/10.34763/jmotherandchild.20202402si.2018.000005

Palabras clave
inherited metabolic disorder, endocrine dysfunction, hormones, hypogonadism, thyroid, diabetes mellitus, adrenal failure

© 2020 Karolina M. Stepien, published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Hormonal dysfunction in adult patients affected with inherited metabolic disorders

Article Category: Review paper

Publicado en línea: 10 nov 2020

Páginas: 21 - 31

DOI: https://doi.org/10.34763/jmotherandchild.20202402si.2018.000005

Palabras claveinherited metabolic disorder, endocrine dysfunction, hormones, hypogonadism, thyroid, diabetes mellitus, adrenal failure

© 2020 Karolina M. Stepien, published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Palabras clave
inherited metabolic disorder, endocrine dysfunction, hormones, hypogonadism, thyroid, diabetes mellitus, adrenal failure