Case Report ARTICLE
Osteogenesis imperfecta due to combined heterozygous mutations in both COL1A1 and COL1A2, coexisting with pituitary stalk interruption syndrome: A case report
- 1Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, China
- 2Department of Endocrinology and Metabolism, Institute of Endocrinology, Liaoning Provincial Key Laboratory of Endocrine Diseases, China
Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder, characterized by reduced bone content, fractures and skeletal malformation due to abnormal synthesis or dysfunction of type I collagen protein. Pituitary stalk interruption syndrome (PSIS) is usually associated with environmental and hereditary factors. Here, we report a rare case of OI and PSIS co-occurrence. A 19-year-old male patient sought treatment for growth delay and absent secondary sexual characteristics. Hormone measurements indicated the presence of hypopituitarism (secondary hypothyroidism, growth hormone deficiency, ACTH-cortisol hormone deficiency, hypogonadotropic hypogonadism). Pituitary magnetic resonance imaging indicated reduced morphology of the anterior lobe, absence of the pituitary stalk, and ectopic displacement of the posterior lobe to the infundibulum, supporting a diagnosis of PSIS. In addition, the patient, his monozygotic twin brother (no evidence of PSIS), and their mother all presented blue sclera and susceptibility to bone fractures before adulthood. Next-generation sequencing demonstrated that the family had compound heterozygous mutations in COL1A1 and COL1A2, with no known mutations related to PSIS, pituitary hormone deficiency (PHD), or holoprosencephaly (HPE). The mother experienced breech and natural delivery of the patient and his brother, respectively. Thus, we deduced that the patient’s PSIS might have resulted from breech delivery. Although we cannot exclude the possibility that the proband might have an undetected genetic abnormality causing PSIS or increasing his susceptibility to damage to the hypothalamic-pituitary region due to the limitation of exome sequencing, this rare case suggests that breech delivery in the newborn with OI might be related to PSIS.
Keywords: skeletal malformation, Next generation sequencing (NGS), Case report [publication type], Osteogenesis imperfecta (OI), Pituitary stalk interruption syndrome (PSIS)
Received: 01 Aug 2018;
Accepted: 07 Mar 2019.
Edited by:Ursula B. Kaiser, Brigham and Women's Hospital, Harvard Medical School, United States
Reviewed by:Maria M. Pineyro, Universidad de la República, Uruguay
Ana Paula Abreu, Brigham and Women's Hospital, Harvard Medical School, United States
Copyright: © 2019 Wang, Zhang and 王. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Dr. 晓黎 王, Department of Endocrinology and Metabolism, Institute of Endocrinology, Liaoning Provincial Key Laboratory of Endocrine Diseases, Shenyang, Liaoning Province, China, email@example.com