Chapter 75: Hypoparathyroidism and Pseudohypoparathyroidism Mishaela R. Rubin and Michael A. Levine

Table 1. Classification of Hypoparathyroidism From the Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, 7th Edition. www.asbmrprimer.org Table 1. Classification of Hypoparathyroidism © 2008 American Society for Bone and Mineral Research

From the Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, 7th Edition. www.asbmrprimer.org Figure 1 Figure 1 PTH infusion. cAMP excretion in urine in response to the intravenous administration of bovine parathyroid extract (300 USP units) from 9:00 to 9:15 a.m. The peak response in normals ( ) is 50- to 100-fold times basal; patients with PHP type Ia (•) or PHP type Ib (◦) show only a 2- to 5-fold response. Figure 1 PTH infusion. cAMP excretion in urine in response to the intravenous administration of bovine parathyroid extract (300 USP units) from 9:00 to 9:15 a.m. The peak response in normals ( ) is 50- to 100-fold times basal; patients with PHP type Ia (•) or PHP type Ib (◦) show only a 2- to 5-fold response. © 2008 American Society for Bone and Mineral Research

From the Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, 7th Edition. www.asbmrprimer.org Figure 2 Figure 2 AHO. Typical features of AHO. The female in the picture shows short stature, sexual immaturity (A), and brachydactyly (B). Note the extreme shortening of digit IV and distal phalanx of digit I (width greater than length) in B and D and the replacement of knuckles by dimples (Archibald sign) in C. Figure 2 AHO. Typical features of AHO. The female in the picture shows short stature, sexual immaturity (A), and brachydactyly (B). Note the extreme shortening of digit IV and distal phalanx of digit I (width greater than length) in B and D and the replacement of knuckles by dimples (Archibald sign) in C. © 2008 American Society for Bone and Mineral Research

From the Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, 7th Edition. www.asbmrprimer.org Figure 3 Figure 3 GNAS gene. General organization of the GNAS gene complex. The GNAS gene complex consists of 13 exons that encode the signaling protein Gαs. Upstream of exon 1 are three alternative first exons that are labeled exon 1A, XLαs, and Nesp55; exons 1–5 for the NESP antisense transcript (AS) are also depicted. The three alternative exons are spliced to exons 2–13 to produce unique transcripts. The DMRs are denoted above the respective promoters, and arrows denote the direction of transcription. Nesp55 is transcribed exclusively from the maternal allele; XLαs and exon 1A are transcribed exclusively from the paternal allele. Nesp AS (antisense) and exon 1a transcripts produce noncoding RNA’s. Gαs transcripts are biallelically expressed except in a small number of tissues, such as the renal proximal tubules, thyroid, gonads, and pituitary somatotrophs, where expression is preferentially from the maternal allele. Figure 3 GNAS gene. General organization of the GNAS gene complex. The GNAS gene complex consists of 13 exons that encode the signaling protein Gαs. Upstream of exon 1 are three alternative first exons that are labeled exon 1A, XLαs, and Nesp55; exons 1–5 for the NESP antisense transcript (AS) are also depicted. The three alternative exons are spliced to exons 2–13 to produce unique transcripts. The DMRs are denoted above the respective promoters, and arrows denote the direction of transcription. Nesp55 is transcribed exclusively from the maternal allele; XLαs and exon 1A are transcribed exclusively from the paternal allele. Nesp AS (antisense) and exon 1a transcripts produce noncoding RNA’s. Gαs transcripts are biallelically expressed except in a small number of tissues, such as the renal proximal tubules, thyroid, gonads, and pituitary somatotrophs, where expression is preferentially from the maternal allele. © 2008 American Society for Bone and Mineral Research