SAT-207 Impact of Growth Hormone Treatment on a 12 Year Old Female with Newly Diagnosed Panhypopituitarism and Distal Arthrogryposis

Abstract Disclosure: M.E. Patterson: None. L. Meller: None. G. Akkad: None. Background: Panhypopituitarism, characterized by multiple pituitary hormone deficiencies, is generally diagnosed in infancy or early childhood. Panhypopituitarism is less commonly initially diagnosed in older children and teenagers. Herein, we present a unique case of a 12-year-old female with late-onset panhypopituitarism presenting with short stature and concomitant bilateral distal arthrogryposis, who was successfully treated with growth hormone (GH) without worsening of arthrogryposis contractures. Case Description A 12-year-old female born at 38 weeks of gestation with a past medical history of arthrogryposis presented for an endocrinology evaluation due to short stature. She was projected to be at the 75th percentile on the growth curve but had been in the 10th-25th percentile for most of her childhood but had only recently dropped below the 5th percentile by age 12. She was found to have Tanner stage 1 breast development and Tanner stage 1 pubic hair. Contractures were noted in both hands. Work up from the primary care physician confirmed normal karyotype (46,XX). She was found to have concurrent GH deficiency (IGF-1: 12 ng/mL, Z-Score -4.6 SD), hypothyroidism (Free T4: 0.56 ng/dL), and adrenal insufficiency (baseline cortisol 2.8 ug/dL). Cortisol and growth hormone stimulation testing confirmed their deficiencies. Given her panhypopituitarism, an MRI was completed and showed findings compatible with pituitary stalk interruption syndrome (PSIS). Treatment began with hydrocortisone (9 mg/m^2/day) and levothyroxine (37.5 mcg daily) with normalization of thyroid hormone levels. GH replacement was eventually started after careful discussions with the family out of concerns that it might exacerbate her hand arthrogryposis contractures. She was started on weekly subcutaneous Skytrofa injections (7.6 mg SQ weekly, 0.24 mg/kg/week). At her three-month follow-up visit, her growth velocity had increased to 8.7 cm/year. By the next three-month follow-up visit, her growth velocity recorded at 17.4 cm/year. A repeat bone age X-ray taken was consistent with her chronological age, and her predicted adult height had increased to 64 inches, compared to the previous prediction of 60 inches. All without any worsening of hand contractures. Conclusion: Currently, no reports exist on the effects of GH therapy on arthrogryposis contractures. However, clinicians may remain hesitant given concerns of GH therapy on mediating skeletal growth and worsening arthropathies. This case report highlights that initiation of GH therapy may lead to a significant growth improvement without aggravating arthrogryposis-related contractures. However, generalizations should be made with caution, and we emphasize the importance of shared-decision making and frequent follow up in the use of GH therapy in patients with congenital contractures. Presentation: Saturday, July 12, 2025

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Journal
Journal of the Endocrine Society
Published
2025-10-01
DOI
https://doi.org/10.1210/jendso/bvaf149.1775
Primary Topic
Neurogenetic and Muscular Disorders Research
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article
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article

SAT-207 Impact of Growth Hormone Treatment on a 12 Year Old Female with Newly Diagnosed Panhypopituitarism and Distal Arthrogryposis

Leo Meller, Mary E. Patterson, Ghassan Akkad
Journal of the Endocrine Society
Neurogenetic and Muscular Disorders Research
article

SAT-207 Impact of Growth Hormone Treatment on a 12 Year Old Female with Newly Diagnosed Panhypopituitarism and Distal Arthrogryposis

Leo Meller, Mary E. Patterson, Ghassan Akkad
article en

Abstract

Abstract Disclosure: M.E. Patterson: None. L. Meller: None. G. Akkad: None. Background: Panhypopituitarism, characterized by multiple pituitary hormone deficiencies, is generally diagnosed in infancy or early childhood. Panhypopituitarism is less commonly initially diagnosed in older children and teenagers. Herein, we present a unique case of a 12-year-old female with late-onset panhypopituitarism presenting with short stature and concomitant bilateral distal arthrogryposis, who was successfully treated with growth hormone (GH) without worsening of arthrogryposis contractures. Case Description A 12-year-old female born at 38 weeks of gestation with a past medical history of arthrogryposis presented for an endocrinology evaluation due to short stature. She was projected to be at the 75th percentile on the growth curve but had been in the 10th-25th percentile for most of her childhood but had only recently dropped below the 5th percentile by age 12. She was found to have Tanner stage 1 breast development and Tanner stage 1 pubic hair. Contractures were noted in both hands. Work up from the primary care physician confirmed normal karyotype (46,XX). She was found to have concurrent GH deficiency (IGF-1: 12 ng/mL, Z-Score -4.6 SD), hypothyroidism (Free T4: 0.56 ng/dL), and adrenal insufficiency (baseline cortisol 2.8 ug/dL). Cortisol and growth hormone stimulation testing confirmed their deficiencies. Given her panhypopituitarism, an MRI was completed and showed findings compatible with pituitary stalk interruption syndrome (PSIS). Treatment began with hydrocortisone (9 mg/m^2/day) and levothyroxine (37.5 mcg daily) with normalization of thyroid hormone levels. GH replacement was eventually started after careful discussions with the family out of concerns that it might exacerbate her hand arthrogryposis contractures. She was started on weekly subcutaneous Skytrofa injections (7.6 mg SQ weekly, 0.24 mg/kg/week). At her three-month follow-up visit, her growth velocity had increased to 8.7 cm/year. By the next three-month follow-up visit, her growth velocity recorded at 17.4 cm/year. A repeat bone age X-ray taken was consistent with her chronological age, and her predicted adult height had increased to 64 inches, compared to the previous prediction of 60 inches. All without any worsening of hand contractures. Conclusion: Currently, no reports exist on the effects of GH therapy on arthrogryposis contractures. However, clinicians may remain hesitant given concerns of GH therapy on mediating skeletal growth and worsening arthropathies. This case report highlights that initiation of GH therapy may lead to a significant growth improvement without aggravating arthrogryposis-related contractures. However, generalizations should be made with caution, and we emphasize the importance of shared-decision making and frequent follow up in the use of GH therapy in patients with congenital contractures. Presentation: Saturday, July 12, 2025

Journal of the Endocrine SocietyVol. 9(Supplement_1)
UC San Diego Health System (US), University of California San Diego (US), Rady Children's Hospital-San Diego (US)
Merck KGaA
Openalex Percentile: Top 58%
Neurogenetic and Muscular Disorders Research
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