Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association
Joint Authors
Torga, Ana Patricia
Hodax, Juanita
Mori, Mari
Schwab, Jennifer
Quintos, Jose Bernardo
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-10-02
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Kleefstra syndrome is a genetic condition characterized by intellectual disability, childhood hypotonia, and facial dysmorphisms.
Genital anomalies such as micropenis, cryptorchidism, and hypospadias have been reported in 30-40% of males diagnosed with the disease.
However, endocrinological investigations have been limited.
We describe a case of an adolescent male with Kleefstra syndrome due to a pathogenic variant in the EHMT1 gene whose workup for isolated micropenis is suggestive of a partial hypogonadotropic hypogonadism.
A possible endocrine mechanism of the genital anomaly associated with Kleefstra syndrome is discussed.
American Psychological Association (APA)
Torga, Ana Patricia& Hodax, Juanita& Mori, Mari& Schwab, Jennifer& Quintos, Jose Bernardo. 2018. Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association. Case Reports in Endocrinology،Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1142963
Modern Language Association (MLA)
Torga, Ana Patricia…[et al.]. Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association. Case Reports in Endocrinology No. 2018 (2018), pp.1-5.
https://search.emarefa.net/detail/BIM-1142963
American Medical Association (AMA)
Torga, Ana Patricia& Hodax, Juanita& Mori, Mari& Schwab, Jennifer& Quintos, Jose Bernardo. Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association. Case Reports in Endocrinology. 2018. Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1142963
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1142963