POU1F1 mutations in combined pituitary hormone deficiency: differing spectrum of mutations in a Western-Indian cohort and systematic analysis of world literature

Jadhav, Swati; Diwaker, Chakra; Lila, Anurag; Gada, Jugal V; Kale, Shantanu; Sarathi, Vijaya; Thadani, Puja; Arya, Sneha; Patil, Virendra; Shah, Nalini; Bandgar, Tushar

doi:10.1007/s11102-021-01140-9

Cited by 8 publications

(5 citation statements)

References 47 publications

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“…The records (January 2002 to May 2021) of idiopathic GHD patients (n = 179, excluding cases due to neoplastic, in ammatory, ischemic, or post-radiation pituitary insult) managed at our center were screened for inclusion in the study. The diagnosis of GHD was based on peak GH of < 7 ng/ml in patients < 18 years, or < 3 ng/ml for those aged ≥ 18 years on at least one GH stimulation test (clonidine stimulation test, insulin tolerance test, or glucagon stimulation test) with low age and sex-matched serum insulin-like growth factor 1 (IGF-1) level [13]. CPHD was de ned as the coexistence of GHD with any other anterior pituitary hormone de ciency (thyroid, cortisol, or gonadal axes).…”

Section: Methodsmentioning

confidence: 99%

Pituitary stalk interruption syndrome: phenotype, predictors, and pathophysiology of perinatal events

et al. 2022

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Purpose: There is limited data regarding Pituitary Stalk Interruption Syndrome (PSIS) from India. Moreover, the pathophysiological link between perinatal events and PSIS is unclear. We aim to elucidate the predictors of PSIS among patients with growth hormone de ciency (GHD) and perinatal events in PSIS by comparing cohorts of PSIS and genetically proven GHD without PSIS.Methods: Among 179 GHD patients, 56 PSIS and 70 genetically positive GHD (52-GHRHR, 15-POU1F1, and 3-PROP1) patients were included. Perinatal events, clinical anomalies, pituitary hormone de ciency, and imaging ndings were recorded. We compared subgroup of PSIS-isolated GHD (PSIS-IGHD) with GHRHR-IGHD and subgroup of PSIS-combined pituitary hormone de ciency (PSIS-CPHD) with POU1F1/PROP1-CPHD.Results: PSIS patients (45 males, median age: 12.5 years) most commonly presented with short stature. At last follow up (median age: 17.35 years), gonadal (during pubertal-age), thyroid and cortisol axes were affected in 81.6%, 62.5%, and 62.5%. 10/13 (77%) of PSIS children with initial IGHD diagnosis manifested hypogonadism during pubertal age. Male predominance, sporadic presentation, clinical anomalies were signi cantly higher in both PSIS subgroups than the respective genetic subgroups. Breech presentation was higher in PSIS-CPHD than POU1F1/PROP1-CPHD (44.4% vs 5.5%, p=0.004). Neonatal hypoglycemia (22% vs. 0%, p=0.05) and jaundice (42 vs. 5%, p=0.004) were higher in PSIS-CPHD than PSIS-IGHD.Conclusion: Later age at presentation and frequent hypogonadism were observed in our PSIS cohort. Male sex, sporadic presentation, clinical anomalies, and breech presentation predicted PSIS at presentation. Breech presentation in PSIS is likely due to stalk interruption rather than hormonal de ciency.

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Section: Methodsmentioning

confidence: 99%

Pituitary stalk interruption syndrome: phenotype, predictors, and pathophysiology of perinatal events

et al. 2022

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“…Central precocious puberty also occurs in other diseases that associate hypopituitarism, among which lesions of the central nervous system, such as intracranial malignancies and cranial radiotherapy (50)(51)(52)(53), severe head injury (53), arachnoid cyst and septo-optic dysplasia (54)(55)(56)(57)(58). Other possible situations involve genetic causes such as, combined pituitary hormone deficiency due to POU1F1 gene mutation (59,60), Kabuki syndrome (61,62), Williams-Beuren syndrome (63, 64), Mayer-Rokitansky-Kuster-Hauser syndrome (65) and developmental defect of the hypothalamic-pituitary area (66). The possible common etiological mechanisms in both situations should also be the subject of further studies, as the underlying mechanism of remains unclear (59).…”

Section: Evolution and Therapeutic Approachmentioning

confidence: 99%

Central precocious puberty in Prader-Willi syndrome: a narrative review

Nicoară,

Scutca,

Mang

et al. 2023

Front. Endocrinol.

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Prader-Willi syndrome (PWS, OMIM176270) is a rare genetic disorder with recognizable dysmorphic features and multisystemic consequences such as endocrine, neurocognitive and metabolic ones. Although most patients with Prader-Willi syndrome exhibit hypogonadotropic hypogonadism, there is variability regarding sexual maturation, with precocious puberty occurring in rare cases. Our aim is to elaborate a thorough review of Prader-Willi patients with central precocious puberty, in order to raise awareness of such cases and to enhance our knowledge regarding the diagnosis and prompt treatment of this particular PWS patients.

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“…14 Although alternative splicing of POU1F1 is evolutionarily conserved among vertebrates, the functional significance of the minor, beta isoform remains unclear. 10 The first case of a recessive POU1F1 loss of function was described in a child with combined pituitary hormone deficiency (CPHD [MIM: 613038, 262600, 221750, 262 700, 601538, 173110, 615849, 600577, 182230, 612079, and 602146]) born to consanguineous parents; 16 since then, many unique variants in POU1F1 have been reported in people with CPHD or isolated growth hormone deficiency (IGHD [MIM: 307200, 262400, 173100, 612781, 139250, 618157, 139191, 262500, 615925, and 618 160) [17][18][19][20][21][22][23] (reviewed in Jadhav et al 24 ). A few dominantnegative mutations have been reported that most likely act by interfering with the function of POU1F1 dimers.…”

Section: Introductionmentioning

confidence: 99%

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Gergics

Smith

Bando

et al. 2021

The American Journal of Human Genetics

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POU1F1 mutations in combined pituitary hormone deficiency: differing spectrum of mutations in a Western-Indian cohort and systematic analysis of world literature

Cited by 8 publications

References 47 publications

Pituitary stalk interruption syndrome: phenotype, predictors, and pathophysiology of perinatal events

Pituitary stalk interruption syndrome: phenotype, predictors, and pathophysiology of perinatal events

Central precocious puberty in Prader-Willi syndrome: a narrative review

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

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