A Case of Hypophosphatasia With Normal Alkaline Phosphatase Levels.

Background/objective: Hypophosphatasia (HPP) is a rare disease associated with low serum alkaline phosphatase (ALP) activity. Here, we present a case of a patient with normal serum ALP levels diagnosed with HPP.

Case Report: A 36-year-old woman presented with progressive fatigue, weakness, and joint pain.

Osteoporosis Improved by Romosozumab Therapy in a Patient With Type I Osteogenesis Imperfecta.

Background/objective: Osteogenesis imperfecta (OI) is a genetic disorder that affects type 1 collagen synthesis causing increased bone fragility, low bone mass, and skeletal deformity. Bisphosphonates are recommended for treatment of OI patients; however, the efficacy of sclerostin inhibitors such as romosozumab has not been determined in OI patients with osteoporosis.

Case Report: A 52-year-old G2P2 clinically diagnosed with OI, with a history of multiple fractures beginning in childhood presented with low bone mass.

A Case of Spondylodysplastic Ehlers-Danlos Syndrome With Comorbid Hypophosphatasia.

Background/objective: Spondylodysplastic Ehlers-Danlos syndrome (spEDS) is a rare subtype of the heritable connective tissue disorder characterized in the 2017 Ehlers-Danlos syndrome (EDS) nosology. Three biallelic mutations, , , and , confirm the diagnosis of spEDS. Hypophosphatasia (HPP) is a heritable disorder caused by a genetic sequence variation in the gene affecting bone mineralization.

AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS/AMERICAN COLLEGE OF ENDOCRINOLOGY CLINICAL PRACTICE GUIDELINES FOR THE DIAGNOSIS AND TREATMENT OF POSTMENOPAUSAL OSTEOPOROSIS- 2020 UPDATE .

The development of these guidelines is sponsored by the American Association of Clinical Endocrinologists (AACE) Board of Directors and American College of Endocrinology (ACE) Board of Trustees and adheres with published AACE protocols for the standardized production of clinical practice guidelines (CPGs). Recommendations are based on diligent reviews of the clinical evidence with transparent incorporation of subjective factors, according to established AACE/ACE guidelines for guidelines protocols. The Executive Summary of this 2020 updated guideline contains 52 recommendations: 21 Grade A (40%), 24 Grade B (46%), 7 Grade C (14%), and no Grade D (0%).