Category: Calcium/Bone Disorders
Borjeson Foresman Leyhman syndrome (BFLS) is a rare genetic disease. It is characterized by various features including intellectual disability, hypogonadism, obesity, developmental delay and distinctive facial features. The clinical manifestation is variable among patients. Possible pathogenesis is mutations in the PHF6 gene on the X chromosome. Although the exact incidence is unknown, approximately 40 unrelated families with various isolated cases have been reported in the literature. We present a case of BFLS associated with left hip fracture secondary to hypogonadism induced osteoporosis and vitamin D deficiency.
34 years-old Caucasian adopted male who was diagnosed with BFLS by genetic testing during childhood presented to the ER with left hip fracture after a ground level fall. Endocrinology were consulted for further evaluation and management of osteoporosis in the setting of severe vitamin D deficiency diagnosed 3 weeks prior to admission. On physical examination, he was obese, short stature with lack temporal hair recession and no secondary sexual characteristics manifestation. He had distinctive coarse facial features of BFLS including large, fleshy earlobes, deep-set eyes, prominent supraorbital ridge and thickened connective tissue of the face. He had mental retardation, microcephaly, dorsal kyphosis with gynecomastia. Genital exam revealed micropenis with unpalpable testis and absence of pubic hair. Laboratory tests were significant for low IGF 1 at 65 ng/ml, with low testosterone at
Results : <12 ng/dl, low LH <0.1 miu/ml and low FSH 0.3 miu/ml indicating hypogonadotrophic hypogonadism with normal smell testing. HbA1c , TFT, estradiol and prolactin were in the normal range.
BFLS is a rare X-linked recessive form of mental retardation first described in 1962. Individuals with BFLS may have hypogonadism, short stature and delayed in sexual development. Majority of the patients have small genitalia or undescended testis. Males may develop gynecomastia due to the testosterone/estradiol imbalance. Other patients have been reported to develop hypopituitarism, diabetes mellitus type 2 and/or thyroid diseases later in life.Our patient had most clinical and laboratory finding described in literature. Due to hypogonadism, these patients are at higher risk of osteoporosis and fractures.
BFLS is a rare clinical condition that can lead to endocrinopathies such as hypogonadism and osteoporosis and the patients can present with bony fractures. Endocrinologist should be aware of these rare diseases. All endocrinopathies should be addressed in timely manner to prevent further complications and improve quality of life.
Ghada Elshimy– Endocrinology Fellow 1st year, University of Arizona College of Medicine, Phoenix, Phoenix, Arizona
Kelvin Tran– Endocrinology fellow 1st year, University of Arizona College of Medicine, Phoenix
Ricardo Correa– Endocrinology, diabetes and metabolism fellowship director, University of Arizona College of Medicine-Phoenix and Phoenix VA, Phoenix, Arizona
Richa Bhattarai– Endocrinology Attending physician, University of Arizona College of Medicine, Phoenix
Endocrinology Fellow 1st year
University of Arizona College of Medicine, Phoenix
Endocrinology fellow 1st year
University of Arizona College of Medicine, Phoenix
Endocrinology, diabetes and metabolism fellowship director
University of Arizona College of Medicine-Phoenix and Phoenix VA
Ricardo Correa, M.D., Es. D., F.A.C.P., C.M.Q. is an Assistant Professor of Medicine and Program Director for the Endocrinology, Diabetes and Metabolism of the University of Arizona College of Medicine-Phoenix and the Warren Alpert Medical School of Brown University in the department of Endocrinology, Diabetes and Metabolism. He is the chair of the young physician subcommittee of the American Association of Clinical Endocrinologist (YPS-AACE). Also he is editor of Dynamed and outreach unit director of Endotext.org and Thyroid manager and editorial board of multiple endocrine and internal medicine journals.
He completed his Medical School and Education Master at University of Panama. He completed a research fellowship in Epidemiology and Tropical disease at ICGES in Panama City and his internal medicine residency at Jackson Memorial hospital-University of Miami (UM) program. In 2012, he was honored with the AOA and GoldDOC Award from the UM. Then he pursued his clinical and research fellowship in endocrinology with special focus in neuroendocrinology and adrenals at National Institute of Health.
He was trained in Evidence-based Medicine at McMaster University in Canada and in Editorial process and OJS by LATINDEX. He is co-director of the Panamanian Cochrane Center and EBM advocate.
Dr. Correa has been involved in organized medicine since medical school. He has been scientific committee chair and vice speaker for the AMA-RFS, chair of the CoA for the ACP FC, Board of Trustee of the Maryland Medical Society, National Secretary of the CoA for the NHMA, Regional Vice President of the CIR, Medical Education Officer of JDN-WMA. He has been involved with local, regional and national organization in the area of medical education, leadership and physician wellbeing including the AMA joy in medicine organization, ACGME at different level including the duty hour task force, NBME as part of the board, NBPAS and other organization.
At AACE and ACE and Endocrine Society, Dr. Correa has occupied different position from been the fellow-in-training board of director member to member and advisor of multiple committees throughout the years.
Dr. Correa has been involved in multiple academic, scientific and educational activities including article Consultant, Interpretation of the Medical Literature Project, NBME, International Committee member of the Committee on publications ethics (COPE), World Association of Medical Editors, Deputy Editor of International Archives of Medicine, Editorial board and peer reviewer of multiple journals including Annals of Public Health, PAHO journal, SGIM journal, International Journal of Endocrinology, International Journal of Diabetes, International Journal of Clinical Cases and Images, International journal of case reports, etc. Also he is consultant for Latinamerican science center including Bolivia and Panama national science department.
He is board certified in Medical Quality. He is the author of the book title “Case report: basics and publication”. His research is focus on neuroendocrinology mainly on pituitary and adrenal tumor and new genetic mutations.