Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years

Hietamäki, Johanna; Kärkinen, Juho; Iivonen, Anna-Pauliina; Vaaralahti, Kirsi; Tarkkanen, Annika; Almusa, Henrikki; Huopio, Hanna; Hero, Matti; Miettinen, Päivi J.; Raivio, Taneli

doi:10.1016/j.eclinm.2022.101556

Cited by 8 publications

(13 citation statements)

References 69 publications

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“…The high male-to-female ratio has been related to X-linked recessive genes and male susceptibility to prenatal and/or perinatal stresses [15]. The signs/complaints of short stature, followed by hypothyroidism, undescended testis/micropenis, hypoglycemia, delayed puberty, and polydipsia seen among our patients were also similar to previously reported commonly seen symptoms of prolonged jaundice, hypoglycemia, micropenis, or undescended testis in the newborn period and short stature or delayed puberty in childhood/adolescence [2,16]. Contrary to the typical CPHD symptom of short stature, patient #6 displayed normal; even accelerated growth with weight and height SD scores over 3 and an MPH SD score of 1, along with a blunted response of GH levels to ITT.…”

Section: Discussionsupporting

confidence: 88%

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Clinical Characteristics of Children with Combined Pituitary Hormone Deficiency and the Effects of Growth Hormone Treatment

Besci,

Sevim,

Acinikli

et al. 2023

Klin Padiatr

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Aim We aimed to describe the clinical characteristics of patients with congenital combined pituitary hormone deficiency (CPHD) and evaluate the first-year growth responses of individuals with CPHD and isolated growth hormone deficiency (IGHD) in order to establish the influence of other hormone deficiencies on growth response. Patients and Methods This retrospective study was conducted in four tertiary care centers in Turkey. The records of patients diagnosed with CPHD (n=39) and severe IGHD (n=50) were collected. Cases with acquired lesions or chronic diseases were not included in the study. Data are presented as median (interquartile range). Results Among 39 patients (13 females; 33%) with a diagnosis of CPHD, the majority of patients (64%) presented initially with combined deficits at baseline examination, whereas isolated deficiencies (36%) were less prevalent. Among all patients with GH deficiency, TSH, ACTH, FSH/LH, and ADH deficiencies were present in 94%, 74%, 44%, and 9% of patients, respectively. Patients with CPHD were diagnosed at a younger age (4.9 (8.4) vs. 11.6 (4.1), p<0.001, respectively) and had lower peak GH concentrations (0.4 (1.8) vs. 3.7 (2.9), p<0.001, respectively) than patients with IGHD. Patients with IGHD and CPHD had similar first-year growth responses (Δheight SD score of 0.55 (0.63) vs. 0.76 (0.71), respectively, p=0.45). Conclusions We established the nature and timing of numerous hormonal deficits emerging over time. We also identified that the existence of CPHD did not hinder growth response.

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Section: Discussionsupporting

confidence: 88%

“…Congenital CPHD (cCPHD), which affects 1 in 16,000 children, remains idiopathic in approximately 85 % of patients; however, may result from underlying anatomical or genetic defects [2,3]. Over 30 genes have been linked to the hypothalamic-pituitary axis, with PROP1, POUF1, HESX1, LHX3, and LHX4 being the most common [1].…”

Section: Introductionmentioning

confidence: 99%

Clinical Characteristics of Children with Combined Pituitary Hormone Deficiency and the Effects of Growth Hormone Treatment

Besci,

Sevim,

Acinikli

et al. 2023

Klin Padiatr

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“…Current knowledge on GH’s influence on ovaries has recently been discussed by Devesa and Caicedo [ 48 ], and interactions between GH/IGF-1 and testicular function by Tenuta et al [ 49 ]. However, GH secreted by the pituitary gland of the fetus seems to have no evident effects on intrauterine growth, as the birth sizes of newborns with congenital GHD are, in general, within the normal range [ 1 , 8 , 9 , 18 ].…”

Section: Discussionmentioning

confidence: 99%

“…In addition, IGF-1 and IGFBP-3 are low in such children; however, in the youngest age groups, the lower limit of the normal range of IGF-1 may be below the sensitivity of the assay. Auxological assessment, especially confirming short stature, is not a question in newborns and infants, as the birth size of children with CPHD is usually normal [ 1 , 8 , 9 , 18 ].…”

Section: Discussionmentioning

confidence: 99%

“…Very recently, Hietamäki et al [ 18 ] have analyzed a cohort of 124 patients with CPHD, treated in a single tertiary center during over 30 years, and identified 48 cases of congenital CPHD, thereby estimating its incidence in the population as 1:16,000. Among these patients, 23 presented with typical features in the neonatal period (severe hypoglycemia; prolonged jaundice; in boys also micropenis or bilateral cryptorchidism); in 13 other patients, the neonatal phenotype was difficult to interpret due to prematurity or missing data.…”

Section: Literature Reviewmentioning

confidence: 99%

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Delayed Diagnosis of Congenital Combined Pituitary Hormone Deficiency including Severe Growth Hormone Deficiency in Children with Persistent Neonatal Hypoglycemia—Case Reports and Review

Smyczyńska

Pawelak

Hilczer

et al. 2022

IJMS

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Apart from stimulation of human growth and cell proliferation, growth hormone (GH) has pleiotropic metabolic effects in all periods of life. Severe GH deficiency is a common component of combined pituitary hormone deficiency (CPHD). CPHD may be caused by mutations in the genes encoding transcription factors and signaling molecules involved in normal pituitary development; however, often its genetic cause remains unknown. Symptoms depend on which hormone is deficient. The first symptom of GH or adrenocorticotropic hormone (ACTH) deficiency may be persistent hypoglycemia in apparently healthy newborns, which is often neglected. Diagnosing CPHD is based on decreased concentrations of hormones secreted by the anterior pituitary and peripheral endocrine glands. Findings in magnetic resonance imaging vary widely, including anterior pituitary hypoplasia/aplasia or pituitary stalk interruption syndrome (PSIS). Delayed diagnosis and treatment can be life-threatening. GH therapy is necessary to recover hypoglycemia and to improve auxological and psychomotor development. We present two girls, diagnosed and treated in our departments, in whom the diagnosis of CPHD was delayed, despite persistent neonatal hypoglycemia; and a review of similar cases, with attention paid to progress in the genetic assessments of such patients, since the introduction of whole exome sequencing that is especially important for PSIS.

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Perineuronal nets’ role in metabolism

Zhang,

Song,

Bai

et al. 2024

American Journal of Physiology-Endocrinology and Metabolism

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Perineuronal nets (PNNs), specialized extracellular matrix structures that envelop neurons, have recently been recognized as key players in the regulation of metabolism. This review explores the growing body of knowledge concerning PNNs and their role in metabolic control, drawing insights from recent research and relevant studies. The pivotal role of PNNs in the context of energy balance and whole-body blood glucose is examined. The review also highlights novel findings, including the effects of astroglia, microglia, sex and gonadal hormones, nutritional regulation, circadian rhythms and age on PNNs dynamics. These findings illuminate the complex and multifaceted role of PNNs in metabolic health.

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Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years

Cited by 8 publications

References 69 publications

Clinical Characteristics of Children with Combined Pituitary Hormone Deficiency and the Effects of Growth Hormone Treatment

Clinical Characteristics of Children with Combined Pituitary Hormone Deficiency and the Effects of Growth Hormone Treatment

Delayed Diagnosis of Congenital Combined Pituitary Hormone Deficiency including Severe Growth Hormone Deficiency in Children with Persistent Neonatal Hypoglycemia—Case Reports and Review

Perineuronal nets’ role in metabolism

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