Category: Calcium/Bone Disorders


Monday, Apr 8
1:00 AM – 2:00 AM

Objective :

Pseudohypoparathyroidism (PHP) is a heterogeneous group of rare metabolic disorders characterized by end-organ resistance to the action of parathyroid hormone (PTH) resulting in elevated serum intact PTH levels, hypocalcemia, and hyperphosphatemia. Affected individuals may present with a constellation of phenotypic characteristics, or a completely unremarkable appearance. Because of its rare prevalence PHP is often missed, and its diagnosis delayed.

Methods : We present the case of a 59-year old male who presented to our medicine clinic to establish care, without specific complaints.

Results : Significant medical history included bipolar disorder and a remote history of tracheotomy during childhood. Routine laboratory values revealed hypocalcemia of 5.8 mg/dL (reference range 8 – 10.4 mg/dL). An electrocardiogram revealed a corrected QT segment prolongation, and peak T waves, thus the patient was admitted to the inpatient medical wards for further management. On physical exam, Chvostek's and Trousseau's signs were both negative, and no obvious signs of tetany were found. Further workup revealed elevated serum phosphorous levels of 5.2 mg/dL (reference range 2.5 – 4.5 mg/dL), and serum intact PTH of 227.9 pg/mL (reference range 14-72 pg/mL) along with normal 25-hydroxy vitamin D and 1,25-di-hydroxy vitamin D serum levels, making vitamin D deficiency an unlikely etiology. A 24-hour urine collection was remarkable for low urine calcium and phosphorous. The patient was treated with intravenous calcium gluconate, high doses of calcium carbonate and calcitriol orally with subsequent improvement of serum calcium levels, and resolution of the electrocardiographic changes. Findings on skull radiograph were suspicious for osteodystrophy.

Discussion :

Although the patient did not present signs of dermal ossification, dental defects or short fourth metacarpals, his phenotypic features including a thick complexion, round face, low nasal bridge, short neck and neuropsychiatric impairment in addition to radiographic findings, rose the suspicion for Albright’s hereditary osteodystrophy (AHO). The patient was discharged with prescription of high dose oral calcium and calcitriol. Repeat serum calcium level was 7 mg/dL in a subsequent clinic visit. Additional evaluation with genetic testing and methylation analysis are warranted.

Conclusion :

The identification of the GNAS1 gene mutation will be the next step to confirm the diagnosis, moreover, recessive mutation in the mature PTH hormone sequence as an alternative etiology of PTH resistance should be investigated if the GNAS1 mutation is absent on genetic studies.


Alberto A. Franco-Akel

Chief of Endocrinology
New York City H+H/ Metropolitan, New York Medical College
New York

Dr. Alberto Franco-Akel is an endocrinologist, currently working as chief of the endocrinology section of the department of medicine, at NYC H+H/Metropolitan, New York City. Dr. Franco-Akel graduated from medical school at Universidad Catolica de Santiago de Guayaquil, Ecuador in 2005. He did his internal medicine residency at NYC H+H/Metropolitan after which he served as Chief Medical Resident, until 2014. Dr. Franco-Akel completed his endocrinology fellowship training at Mount Sinai Beth Israel, New York in 2016. Afterwards, he started working as an internist and endocrinologist at NYC H+H/Metropolitan in 2016, taking charge of patients in the general endocrinology clinic, HRT-LGBT clinics, and Diabetes clinics, as well as the inpatient endocrinology consultation services. He was promoted to Chief of Endocrinology in July 2017. Dr. Franco has an academic affiliation with New York Medical College as an Assistant Professor of Medicine. As such, he participates in mentorship of residents and medical students. Dr. Franco-Akel is actively involved in quality improvement projects, performance improvement projects, as well as programs for the enhancement of care for patients at Metropolitan, including the Diabetes Prevention Program, and Diabetes Self Management Program. Dr. Franco-Akel received the award of The Best Physician Teacher In A Sub-specialty Rotation, and the recognition by New York Medical College medical students for teaching and preceptor-ship in 2018.

Mariya Kononenko

Medical Student
New York Medical College

Mariya Kononenko is a third year medical student, who rotated in the medicine wards and endocrinology at NYC H+H/Metropolitan during clinical clerkships.

Abdullah Azhar

Medicine Resident
New York City H+H/ Metropolitan, New York Medical College

Dr. Abdullah Azhar is a first year categorical medicine resident at NYC H+H/Metropolitan, New York.

Maria Velasquez

Medicine Resident
New York City H+H/ Metropolitan, New York Medical College

Dr. Maria Velasquez is a second year medicine resident at NYC H+H/Metropolitan, New York.

Shobhana Chaudhari

Deputy Chief of Medicine/Medicine Residency Program Director
NYC Health + Hospitals/Metropolitan / New York Medical College
New York, New York

Shobhana A. Chaudhari, MD, FACP, AGSF has been a Medicine Residency Program Director at NYC Health + Hospitals/Metropolitan since 1998. Over these years the training program has achieved impressive academic excellence and has now been accredited by ACGME for ten years with no citations. She believes that being a Residency Program Director is a privilege. She has mentored, guided and assisted so many residents for selection of future career plans.

She has been the Chair of the Graduate Medical Education Committee since joining Metropolitan Hospital and has contributed significantly to graduate medical education activities. She was very instrumental in guiding all program directors, faculty and residents about our recent ACGME CLER site visit.

Dr. Chaudhari is a professor of Clinical Medicine at New York Medical College and a student site Director for all students. She received a number of teaching awards including the Robert Goldstein Award by graduates of New York Medical College.

Dr. Chaudhari is board certified in Internal Medicine and Geriatrics. Under her twenty-year direction the Geriatrics division has played an expanded role in addressing the healthcare needs of the maturing baby boomer generation. Annually, her active participation in presentations at various symposia and workshops in the annual scientific meetings of American Geriatric Society is impressive.

Dr. Chaudhari is also a Deputy Chief for the Department of Medicine.