World journal of clinical pediatrics · 2025
Deficiency of anterior pituitary hormones in Noonan syndrome and its impact on response to growth hormone therapy.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
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Basu Rajdeep, Bera Soumil, Mondal Sunetra, Shah Sapan, Swapnil Kumar, Nanda Roohi, Datta Joydip, Mandal Soumita, Goswami Soumik, Baidya Arjun, Sengupta Nilanjan
Аннотация
BACKGROUND: Noonan syndrome (NS) is an autosomal dominant, multisystem disorder with a prevalence of 1 in 1000-2500. Multiple etiologies have been proposed for short stature in NS, including resistance to growth hormone (GH) and GH deficiency (GHD). Irrespective of the presence of GHD, NS is a Food and Drug Administration-approved indication for recombinant-GH therapy. Few case reports of combined anterior pituitary hormone deficiency (CPHD) in NS have been reported.
AIM: To describe the clinico-biochemical characteristics of NS with CPHD and to assess the response to recombinant GH therapy.
METHODS: An ambispective case-control study was conducted to compare the clinico-hormonal profile and response to recombinant-GH in pediatric patients with NS and CPHD and pediatric patients with NS but without CPHD.
RESULTS: Five children with NS and CPHD were compared to 6 patients with NS but without CPHD. The most common anterior pituitary hormone involvement in combination with GHD was adrenocorticotrophic hormone deficiency causing hypocortisolemia (n = 3, 60%), followed by hypogonadotropic hypogonadism and secondary hypothyroidism (n = 1 each). Pituitary hypoplasia was seen in the magnetic resonance imaging of all patients with CPHD. Patients with NS and CPHD had lower standard deviation scores of height (-4.18 vs -2.52, P = 0.009), bodyweight, and body mass index but a slightly better first year response to recombinant GH (9.2 vs 5.5, P = 0.06). There were no differences in dysmorphisms and other anomalies between the two groups. Patients with NS and CPHD had a similar response to GH as patients with CPHD but without NS. One patient with NS and CPHD developed hypocortisolism after GH initiation.
CONCLUSION: Hypoplasia of the pituitary and GHD with involvement of other pituitary hormones may be seen in NS and may determine response to recombinant GH therapy.
AIM: To describe the clinico-biochemical characteristics of NS with CPHD and to assess the response to recombinant GH therapy.
METHODS: An ambispective case-control study was conducted to compare the clinico-hormonal profile and response to recombinant-GH in pediatric patients with NS and CPHD and pediatric patients with NS but without CPHD.
RESULTS: Five children with NS and CPHD were compared to 6 patients with NS but without CPHD. The most common anterior pituitary hormone involvement in combination with GHD was adrenocorticotrophic hormone deficiency causing hypocortisolemia (n = 3, 60%), followed by hypogonadotropic hypogonadism and secondary hypothyroidism (n = 1 each). Pituitary hypoplasia was seen in the magnetic resonance imaging of all patients with CPHD. Patients with NS and CPHD had lower standard deviation scores of height (-4.18 vs -2.52, P = 0.009), bodyweight, and body mass index but a slightly better first year response to recombinant GH (9.2 vs 5.5, P = 0.06). There were no differences in dysmorphisms and other anomalies between the two groups. Patients with NS and CPHD had a similar response to GH as patients with CPHD but without NS. One patient with NS and CPHD developed hypocortisolism after GH initiation.
CONCLUSION: Hypoplasia of the pituitary and GHD with involvement of other pituitary hormones may be seen in NS and may determine response to recombinant GH therapy.